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<meta name="description" content="Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the multiplex ligation-dependent probe amplification (MLP …"><meta name="keywords" content="pmid:20799323, PMC3797530, doi:10.1002/ajmg.a.33618, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov&#x27;t, Sibel Kantarci, Kate G Ackerman, Barbara R Pober, Child, Chromosome Mapping, Chromosomes, Human, Pair 1*, Congenital Abnormalities / genetics*, DNA / blood, DNA / genetics, DNA / isolation &amp; purification, DNA Primers, Female, Hedgehog Proteins / genetics, Hernia, Diaphragmatic / genetics*, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Informed Consent, Lung / physiology, Male, Mosaicism, Sequence Deletion, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/20799323/"><meta property="og:description" content="Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the multiplex ligation-dependent probe amplification (MLP …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/20799323/"><meta name="twitter:description" content="Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the multiplex ligation-dependent probe amplification (MLP …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
</div>
<div class="action-panel-control-wrap">
<label for="email-citation-format" class="action-panel-label">
Format:
</label>
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
<option selected="selected" value="summary">Summary</option>
<option value="summary-text">Summary (text)</option>
<option value="abstract">Abstract</option>
<option value="abstract-text">Abstract (text)</option>
</select>
</div>
<div class="include-supplemental-container">
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
</div>
<div class="form-field recaptcha ">
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
</div>
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="send">
Send email
</button>
<button class="action-panel-cancel"
aria-label="Close 'Email citations' panel"
ref="linksrc=close_email_panel"
aria-controls="email-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="email"
data-ga-label="cancel">
Cancel
</button>
</div>
<input type="hidden" name="email-search-details" value="" />
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
</form>
</div>
</div>
<div id="collections-action-panel"
class="collections-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-collections-open-panel-enabled="false"
data-collections-open-panel-url-hash="#open-collections-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to Collections
</h3>
<form id="collections-action-panel-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-myncbi-max-collection-name-length="100"
data-add-to-collection-max-amount="1000"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
<input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi">
<div class="choice-group" role="radiogroup">
<ul class="radio-group-items">
<li>
<input type="radio"
id="collections-action-panel-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_new">
<label for="collections-action-panel-new">Create a new collection</label>
</li>
<li>
<input type="radio"
id="collections-action-panel-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="collections_radio_existing">
<label for="collections-action-panel-existing">Add to an existing collection</label>
</li>
</ul>
</div>
<div class="controls-wrapper">
<div class="action-panel-control-wrap new-collections-controls">
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label>
<input
type="text"
name="add-to-new-collection"
id="collections-action-panel-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="save_share"
data-ga-action="create_collection"
data-ga-label="non_favorties_collection">
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
Name must be less than 100 characters
</div>
</div>
<div class="action-panel-control-wrap existing-collections-controls">
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
Choose a collection:
</label>
<select id="collections-action-panel-add-to-existing"
class="action-panel-selector collections-action-add-to-existing"
data-ga-category="save_share"
data-ga-action="select_collection"
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
</select>
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your collection due to an error<br>
<a href="#">Please try again</a>
</div>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="add">
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to Collections' panel"
ref="linksrc=close_collections_panel"
aria-controls="collections-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="collections"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="bibliography-action-panel"
class="bibliography-action-panel action-panel in-progress-dots-panel"
aria-hidden="true"
data-bibliography-open-panel-enabled="false"
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
<div class="inner-wrap">
<h3 class="action-panel-heading">
Add to My Bibliography
</h3>
<form id="bibliography-action-panel-form"
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-add-to-bibliography-max-amount="100"
data-add-to-bibliography-batch-size="10"
data-bibliography-delegates-url="/list-bibliography-delegates/"
data-add-to-bibliography-url="/add-to-bibliography/"
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
<input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi">
<div class="action-panel-control-wrap bibliographies-controls">
<div class="choice-group">
<ul class="bibliographies-action-add radio-group-items">
<li>
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
<label for="my-bibliography">My Bibliography</label>
</li>
</ul>
</div>
</div>
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
Unable to load your delegates due to an error<br>
<a href="#">Please try again</a>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Adding..."
data-pinger-ignore>
Add
</button>
<button class="action-panel-cancel"
aria-label="Close 'Add to bibliography' panel"
ref="linksrc=close_bibliography_panel"
aria-controls="bibliography-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="mybib"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
data-saved-search-open-panel-enabled="false"
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your saved search
</h2>
<form id="saved-search-action-panel-form"
class="saved-search-action-panel-form action-panel-content action-form"
data-create-saved-search-url="/create-saved-search/"
data-try-search-terms-url="/try-search-term/"
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
<input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi">
<div class="action-panel-control-wrap">
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
Name of saved search:
</label>
<input maxlength="200"
type="text"
name="saved-search-name"
id="saved-search-name"
class="saved-search-name"
value=""
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
Search terms:
</label>
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
</div>
<div class="test-search-term-wrap">
<a href="#" class="try-search-term">Test search terms</a>
</div>
<div class="choice-group action-panel-extra-margin-top">
<span class="action-panel-label" id="fieldset-label">
Would you like email updates of new search results?
</span>
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
<ul class="radio-group-items">
<li>
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
</li>
<li>
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
<label for="saved-search-alert-no" class="action-panel-label">No</label>
</li>
</ul>
</fieldset>
</div>
<div class="alert-schedule-wrap">
<div class="action-panel-control-wrap">
<label class="action-panel-label">
Email:
</label>
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
</div>
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="saved-search-frequency" class="action-panel-label">
Frequency:
</label>
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
<option value="monthly">Monthly</option>
<option value="weekly">Weekly</option>
<option value="daily">Daily</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-monthly-additional">
<label for="saved-search-monthly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
<option value="Sunday">The first Sunday</option>
<option value="Monday">The first Monday</option>
<option value="Tuesday">The first Tuesday</option>
<option value="Wednesday">The first Wednesday</option>
<option value="Thursday">The first Thursday</option>
<option value="Friday">The first Friday</option>
<option value="Saturday">The first Saturday</option>
<option value="day">The first day</option>
<option value="weekday">The first weekday</option>
</select>
</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
</label>
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
<option value="Sunday">Sunday</option>
<option value="Monday">Monday</option>
<option value="Tuesday">Tuesday</option>
<option value="Wednesday">Wednesday</option>
<option value="Thursday">Thursday</option>
<option value="Friday">Friday</option>
<option value="Saturday">Saturday</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-report" class="action-panel-label">
Report format:
</label>
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
<option value="DocSum">Summary</option>
<option value="DocSumText">Summary (text)</option>
<option value="Abstract">Abstract</option>
<option value="AbstractText">Abstract (text)</option>
<option value="MEDLINE">PubMed</option>
</select>
</div>
<div class="action-panel-control-wrap">
<label for="saved-search-amount" class="action-panel-label">
Send at most:
</label>
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
<option value="1">1 item</option>
<option value="5" selected>5 items</option>
<option value="10">10 items</option>
<option value="20">20 items</option>
<option value="50">50 items</option>
<option value="100">100 items</option>
<option value="200">200 items</option>
</select>
</div>
<div>
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
Send even when there aren't any new results
</label>
</div>
<div class="action-panel-control-wrap option-text-in-email-wrap">
<label for="saved-search-email-text" class="action-panel-label">
Optional text in email:
</label>
<textarea name="saved-search-email-text"
id="saved-search-email-text"
class="saved-search-email-text"></textarea>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Saving..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Save
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your saved search' panel"
ref="linksrc=close_saved_search_panel"
aria-controls="saved-search-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Create a file for external citation management software
</h2>
<form id="citation-manager-action-panel-form"
class="action-panel-content action-form"
action="/results-export-ids/"
data-by-search-action="/results-export-search-data/"
data-by-ids-action="/results-export-ids/"
method="post"
data-by-search-method="post"
data-by-ids-method="post">
<input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi">
<input name="results-format" type="hidden" value="pubmed"/>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Sending..."
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="save">
Create file
</button>
<button class="action-panel-cancel"
aria-label="Close 'Send citations to citation manager' panel"
ref="linksrc=close_citation_manager_panel"
aria-controls="citation-manager-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="citation_manager"
data-ga-label="cancel">
Cancel
</button>
</div>
</form>
</div>
</div>
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
<div class="inner-wrap">
<h2 class="action-panel-heading">
Your RSS Feed
</h2>
<form id="rss-action-panel-form"
class="rss-action-panel-form action-panel-content action-form"
data-create-rss-feed-url="/create-rss-feed-url/"
data-search-form-term-value="">
<input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi">
<div class="action-panel-control-wrap">
<label for="rss-name" class="action-panel-label required-field-asterisk">
Name of RSS Feed:
</label>
<input maxlength="200"
placeholder="Name"
type="text"
name="rss-name"
id="rss-name"
class="rss-name"
value=''
required
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</div>
<div class="rss-limit-wrap">
<div class="action-panel-control-wrap action-panel-extra-margin-top">
<label for="rss-limit" class="action-panel-label">
Number of items displayed:
</label>
<select id="rss-limit" class="no-border-panel-selector rss-limit">
<option value="5">5</option>
<option value="10">10</option>
<option value="15" selected="selected">15</option>
<option value="20">20</option>
<option value="50">50</option>
<option value="100">100</option>
</select>
</div>
</div>
<div class="action-panel-actions">
<button class="action-panel-submit"
type="submit"
data-loading-label="Creating..."
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="save">
Create RSS
</button>
<button class="action-panel-cancel"
aria-label="Close 'Your RSS' panel"
ref="linksrc=close_rss_panel"
aria-controls="rss-action-panel"
aria-expanded="false"
data-ga-category="save_share"
data-ga-action="alert"
data-ga-label="cancel">
Cancel
</button>
</div>
<div class="action-panel-control-wrap rss-link-copy-wrap">
<label for="rss-link" class="usa-sr-only">RSS Link</label>
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
<button
type="button"
disabled
class="rss-link-copy-button disabled"
data-ga-category="save_share"
data-ga-action="rss"
data-ga-label="copy">
Copy
</button>
</div>
</form>
</div>
</div>
</div>
</div>
<div class="article-page" id="article-page" data-article-pmid="20799323">
<aside class="page-sidebar">
<div class="inner-wrap">
<div class="full-text-links">
<div class="full-view">
<h3 class="title">
Full text links
</h3>
<div class="full-text-links-list">
<a class="link-item
dialog-focus"
href="https://doi.org/10.1002/ajmg.a.33618"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3058&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=20799323&amp;db=pubmed&amp;nlmid=101235741"
title="See full text options at Wiley"
data-ga-category="full_text"
data-ga-action="Wiley"
data-ga-label="20799323"
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-69-wiley-full-text.png" alt="Wiley full text link"><span class="text">
Wiley
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/20799323/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=20799323&amp;db=pubmed&amp;nlmid=101235741"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
data-ga-label="20799323"
><span class="text">
Free PMC article
</span></a>
</div>
</div>
<div class="short-view">
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
Full text links
</a>
</div>
</div>
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
aria-label="Open dialog with citation text in different styles"
data-ga-category="save_share"
data-ga-action="cite"
data-ga-label="open"
data-all-citations-url="/20799323/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/20799323/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="20799323" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
aria-label="Save article in MyNCBI collections."
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_button"
data-collections-open-dialog-enabled="false"
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F20799323%2F%23open-collections-dialog"
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
class="dialog collections-dialog"
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
data-existing-collections-url="/list-existing-collections/"
data-add-to-existing-collection-url="/add-to-existing-collection/"
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
data-myncbi-max-collection-name-length="100"
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="Sl4hNd7lDD5uGP7TnQQv1SliAiV40IaY98Omq3AHdeSYAgdJ09txv0RW8mDgTjIi"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
id="collections-action-dialog-new"
class="collections-new"
name="collections"
value="new"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
id="collections-action-dialog-existing"
class="collections-existing"
name="collections"
value="existing"
checked="true"
data-ga-category="collections_button"
data-ga-action="click"
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
Name your collection:
</label><input
type="text"
name="add-to-new-collection"
id="collections-action-dialog-add-to-new"
class="collections-action-add-to-new"
pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
maxlength="100"
data-ga-category="collections_button"
data-ga-action="create_collection"
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Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the multiplex ligation-dependent probe amplification (MLPA) technique, and also sequenced two candidate genes located therein, dispatched 1 (DISP1) and homo sapiens H2.0-like homeobox (HLX). MLPA analysis verified deletions of this region in two cases, an unreported patient with a 46,XY,del(1)(q41q42.13) karyotype and a previously reported patient with a Fryns syndrome phenotype [Kantarci et al., 2006]. HLX sequencing showed a novel but maternally inherited single nucleotide variant (c.27C&gt;G) in a patient with isolated CDH, while DISP1 sequencing revealed a mosaic de novo heterozygous substitution (c.4412C&gt;G; p.Ala1471Gly) in a male with a left-sided Bochdalek hernia plus multiple other anomalies. Pyrosequencing demonstrated the mutant allele was present in 43%, 12%, and 4.5% of the patient's lymphoblastoid, peripheral blood lymphocytes, and saliva cells, respectively. We examined Disp1 expression at day E11.5 of mouse diaphragm formation and confirmed its presence in the pleuroperitoneal fold, as well as the nearby lung which also expresses Sonic hedgehog (Shh). Our report describes the first de novo DISP1 point mutation in a patient with complex CDH. Combining this finding with Disp1 embryonic mouse diaphragm and lung tissue expression, as well as previously reported human chromosome 1q41q42 aberrations in patients with CDH, suggests that DISP1 may warrant further consideration as a CDH candidate gene.
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<p> Figure 1 </p>
</strong>
<div class="figure-caption-contents"><p> MLPA results for 1q41q42.12 microdeletion… </p></div>
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</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
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<p> Figure 1 </p>
</strong>
<div class="figure-caption-contents"><p> MLPA results for 1q41q42.12 microdeletion screening. Normalized peak height graphs are shown for… </p></div>
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Figure 1
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<div class="figure-caption-contents">MLPA results for 1q41q42.12 microdeletion screening. Normalized peak height graphs are shown for two CDH patients. (A) a CDH patient without a 1q41q42.12 microdeletion (B) <b>Patient 3</b>, the previously reported Fryns phenotype patient [Kantarci et al., 2006]. Each bar represents the normalized peak height for the probe focusing on a gene on the X-axis, and is arranged in genomic order. Bars 1-2: Contol regions on 15q26. Bar 3: <i>PTPN14</i> (212,768,242-212,791,265 at 1q41); Bar 4: <i>USH2A</i> (214,413,915-214,663,361 at 1q41); Bar 5 <i>EPRS</i> (218,227,107-218,286,623 at 1q41); Bar 6: <i>BPNT1</i> (218,297,696-218,329,814 at 1q41); Bar 7: <i>DUSP10</i> (219,941,389-219,982,084 at 1q41); Bar 8: <i>CAPN2</i> (222,011,949-222,030,343 at 1q41); Bar 9: <i>LBR</i> (223,660,887-223,682,407at 1q41.12); Bar 10: <i>ACBD3</i> (224,399,003-224,441,046 at 1q41.12); Bar 11: <i>ITKPKB</i> (224,961,518-224,993,499 at 1q41.12); Bar 12: <i>PSEN2</i> (225,129,689-225,150,427 at 1q41.12 at 1q41.13); and Bar 13: <i>TAF5L</i> (227,801,564-227,828,417 at 1q42.13). Note that the deletion extends from <i>EPRS</i> to <i>ACBD3</i> in (B) <b>Patient 3</b>.</div>
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<strong class="figure-label">
<p> Figure 2 </p>
</strong>
<div class="figure-caption-contents"><p> The family pedigree and sequencing… </p></div>
</div>
</div>
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 2 </p>
</strong>
<div class="figure-caption-contents"><p> The family pedigree and sequencing chromatograms of the <i> DISP1 </i> -exon 8 showing a… </p></div>
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Figure 2
</strong>
<div class="figure-caption-contents">The family pedigree and sequencing chromatograms of the <i>DISP1</i>-exon 8 showing a <i>de novo</i> heterozygous mutation [c.4412C&gt;G (p.Ala1471Gly)] on lymphoblastoid cell line derived DNA of <b>Patient 1</b>. The peripheral blood derived DNA of the patient demonstrates a low level of the mutant allele, while there is no detectable mutant allele in his saliva derived DNA, indicative of tissue specific mosaicism. Arrows show the heterozygous C to G substitution in the patient.</div>
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data-image-width="600"
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<strong class="figure-label">
<p> Figure 3 </p>
</strong>
<div class="figure-caption-contents"><p> Restriction enzyme digestion of a… </p></div>
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 3 </p>
</strong>
<div class="figure-caption-contents"><p> Restriction enzyme digestion of a 195-bp <i> DISP1 </i> exon 8 product with CviKI-1. Wild… </p></div>
</div>
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
<strong class="figure-label">
Figure 3
</strong>
<div class="figure-caption-contents">Restriction enzyme digestion of a 195-bp <i>DISP1</i> exon 8 product with CviKI-1. Wild type product with CviKI-1 recognition site (GG ↓CT) is digested into fragments of 103-bp and 92-bp. The mutation [c.4412C&gt;G (p.Ala1471Gly)] abolishes a CviKI-1 site (GG GT). The presence of the fragments of 195-bp, 103-bp and 92-bp indicates a heterozygous mutation. Samples are as follows: Promega 100-bp DNA ladder (M); undigested PCR product (lane 1); <b>Patient 1s</b> lymphoblastoid cell line (lane 4), peripheral blood (lane 6), and saliva (lane 9); mothers lymphoblastoid cell line (lane 2) and saliva (lane 7); fathers lymphoblastoid cell line (lane 3) and saliva (lane 8); healthy brothers saliva DNA (lane 10); and wild type control (lane 5). Both lane 4 (lymphoblastoid cell line DNA) and lane 6 (peripheral blood DNA) show a heterozygous mutation in <b>Patient 1</b>. Note that the 195-bp mutant fragment is less intense in lane 6 compared to lane 4. There is no observed mutant fragment in the patients saliva DNA (lane 9).</div>
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<img class="figure-thumb" itemprop="thumbnail"
id="article-image-3"
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<strong class="figure-label">
<p> Figure 4 </p>
</strong>
<div class="figure-caption-contents"><p> Pyrosequencing analysis of the <i> DISP1… </i> </p></div>
</div>
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<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
<strong class="figure-label">
<p> Figure 4 </p>
</strong>
<div class="figure-caption-contents"><p> Pyrosequencing analysis of the <i> DISP1 </i> mosaic mutation [c.4412C&gt;G (p.Ala1471Gly)] in <b> Patient 1 </b> and… </p></div>
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Figure 4
</strong>
<div class="figure-caption-contents">Pyrosequencing analysis of the <i>DISP1</i> mosaic mutation [c.4412C&gt;G (p.Ala1471Gly)] in <b>Patient 1</b> and his family members. The mutated base (C&gt;G) is highlighted in yellow. Quantitative analysis identifies that the mutation is present in 43%, 12%, 4.5% of the patients samples from lymphoblastoid cell line, peripheral blood cells, and saliva, respectively.</div>
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/52eb/3797530/ea6a55e8a6e7/nihms-219760-f0005.gif"
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<p> Figure 5 </p>
</strong>
<div class="figure-caption-contents"><p> A) Schematic representation of DISP1… </p></div>
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</div>
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<p> Figure 5 </p>
</strong>
<div class="figure-caption-contents"><p> A) Schematic representation of DISP1 protein and the position of p.Ala1471Gly mutation. B)… </p></div>
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Figure 5
</strong>
<div class="figure-caption-contents">A) Schematic representation of DISP1 protein and the position of p.Ala1471Gly mutation. B) The protein sequence alignment by ClustalW2 (<ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="http://www.ebi.ac.uk/Tools/clustalw2/index.html">http://www.ebi.ac.uk/Tools/clustalw2/index.html</ext-link>) in different species shows that wild type alanine (A) at position 1471 is evolutionarily conserved. Conserved amino acids compared to humans are indicated in <b>red</b>.</div>
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<p> Figure 6 </p>
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<div class="figure-caption-contents"><i> Disp1 </i> and Hedgehog pathway genes…</div>
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<strong class="figure-label">
<p> Figure 6 </p>
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<div class="figure-caption-contents"><i> Disp1 </i> and Hedgehog pathway genes in the diaphragm. <i> In situ </i> hybridization on E11.5…</div>
</div>
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Figure 6
</strong>
<div class="figure-caption-contents"><i>Disp1</i> and Hedgehog pathway genes in the diaphragm. <i>In situ</i> hybridization on E11.5 mouse embryos (A-I) and X-gal staining (J at E11.5 and K-M mature diaphram) during diaphragm development. Developing diaphragmatic tissue including PPF is outlined with dotted lines in A-J. <i>Disp1</i> has a generally diffuse pattern of expression but is not expressed in the heart (shown in sections A-D as negative control). <i>Disp1</i> is highly expressed in the pleuroperitoneal folds (PPFs), especially in the region adjacent to the inferior vena cava (C, D). The expression pattern in the lung includes cells from the mesothelium, mesenchyme, and epithelium (A-F). <i>Indian hedgehog</i> (Ihh) is not expressed in the PPF but is highly expressed in the stomach (G). <i>Patched1</i> is expressed in the esophagus, lung, and stomach but not in the diaphragm (H). <i>Shh</i> is expressed in lung epithelium but not in the PPF (I). <i>Shh</i> expressing cells (Shh <sup>GFP-Cre</sup>) do not contribute to the developing diaphragm tissue but do contribute to the lung and esophagus (J). X-gal staining of mature diaphragms from a Shh-Cre fate mapping experiment show that <i>Shh</i> expressing cells contribute to the esophagus (red arrow) and phrenic nerve (black arrows) but not to the mature diaphragmatic parenchyma (K, L). A control littermate (stained but not Cre expressing) shows no staining of the lung, diaphragm, or esophagus (M). The insert shows a piece of lung as a positive control (M, inset). (lu-lung, ht-heart, IVC-inferior vena cava, li-liver, st-stomach)</div>
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Chromosome Mapping
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DNA / blood
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Informed+Consent"
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href="/?term=%22Lung%2Fphysiology%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc"
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Mosaicism
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</div>
<div id="substances" class="substances keywords-section">
<h2 class="title">
Substances
</h2>
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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DNA Primers
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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Hedgehog Proteins
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href="/?term=%22Hedgehog+Proteins%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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href="/?term=%22SHH+protein%2C+human%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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href="/?term=%22DNA%22%5Bnm%5D&amp;sort=date&amp;sort_order=desc"
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</a></li></ul></div></div></div></li></ul>
</div>
<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=1">
Cited in Books
</a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=2">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=3">
Gene (GeneRIF)
</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=4">
MedGen
</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=5">
MedGen (Bookshelf cited)
</a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=6">
Nucleotide
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=7">
OMIM (cited)
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=8">
Protein
</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=9">
Protein (RefSeq)
</a></li><li><a title="Related PubChem Compound via MeSH" href="https://www.ncbi.nlm.nih.gov/pccompound?linkname=pubmed_pccompound_mesh&amp;from_uid=20799323"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=20799323&ordinalpos=1&linkpos=10">
PubChem Compound (MeSH Keyword)
</a></li></ul>
</div>
<div id="grants" class="grants">
<h2 class="title">
Grants and funding
</h2>
<div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a
title="All articles for grant R01 HD055150/HD/NICHD NIH HHS/United States"
href="/?term=R01+HD055150%2FHD%2FNICHD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc"
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href="/?term=R01+HD055150-04%2FHD%2FNICHD+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&amp;sort=date&amp;sort_order=desc"
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R01 HD55150-01/HD/NICHD NIH HHS/United States
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title="All articles for grant U54 HG003067/HG/NHGRI NIH HHS/United States"
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<div id="linkout" class="linkout">
<h2 class="title">
LinkOut - more resources
</h2>
<ul class="linkout-list"><li><h3 class="linkout-category">Full Text Sources</h3><ul class="linkout-category-links"><li><a
href="https://europepmc.org/abstract/MED/20799323"
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Europe PubMed Central
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Ovid Technologies, Inc.
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PubMed Central
</a></li><li><a
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Wiley
</a></li></ul></li><li><h3 class="linkout-category">Medical</h3><ul class="linkout-category-links"><li><a
href="https://medlineplus.gov/birthdefects.html"
target="_blank"
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MedlinePlus Health Information
</a></li></ul></li><li><h3 class="linkout-category">Molecular Biology Databases</h3><ul class="linkout-category-links"><li><a
href="https://biocyc.org/gene?orgid=HUMAN&amp;id=HS07971"
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BioCyc
</a></li><li><a
href="http://amigo.geneontology.org/amigo/reference/PMID:20799323"
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