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<title>Neonatal Diseases - Genes and Disease - NCBI Bookshelf</title>
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Neonatal Diseases" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22262/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Neonatal Diseases" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22262/" /><meta name="description" content="The human genome is often referred to as a "blueprint" and contains all of the information and instructions necessary for defining a human being. The term genome refers collectively to the DNA and associated protein molecules contained in an organism or a cell. The human genome consists of 23 pairs of chromosomes — threadlike packages of genes and other DNA — with each parent contributing one chromosome to each pair." /><meta name="og:title" content="Neonatal Diseases" /><meta name="og:type" content="book" /><meta name="og:description" content="The human genome is often referred to as a "blueprint" and contains all of the information and instructions necessary for defining a human being. The term genome refers collectively to the DNA and associated protein molecules contained in an organism or a cell. The human genome consists of 23 pairs of chromosomes — threadlike packages of genes and other DNA — with each parent contributing one chromosome to each pair." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22262/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/A65/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22262/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22262_"><span class="title" itemprop="name">Neonatal Diseases</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><p>The human genome is often referred to as a "blueprint" and contains all
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of the information and instructions necessary for defining a human being.
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The term genome refers collectively to the DNA and associated protein
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molecules contained in an organism or a cell. The human genome consists
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of 23 pairs of chromosomes — threadlike packages of genes and other
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DNA — with each parent contributing one chromosome to each pair.</p><p>A gene is a specific sequence of DNA and is actually the functional
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unit of inheritance. Most genes contain the information needed to make
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a protein, or molecules that carry out all of a cell's vital activities.
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Therefore, slight variations in genes lead to slight changes in a protein.
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Although some human diseases are explained by alterations in a single
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gene or of a single chromosome, most are complex and may involve
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multiple genes and protein pathways.</p><p>A myriad of genes, as well as environmental factors, are believed
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to control the complex and integrated processes necessary for fetal
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development. When one or more of these processes goes awry, it can
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result in the birth of an individual with a genetic alteration.
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Scientific studies, often those that use other organisms as a model, will provide information about biological and
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regulatory processes involved in human development and will identify
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critical pathways in which genetic changes result in disease. This
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information will come not only from human studies, but also from other
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model organisms — such as mouse or yeast — that can provide insights into
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how key genes operate in complex systems.</p></div><div id="A65.diseases"><h2 id="_A65_diseases_">Diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/achondroplasia/">Achondroplasia</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/angelmansyndrome/">Angelman syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/cockaynesyndrome/">Cockayne syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/cysticfibrosis/">Cystic fibrosis</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/digeorgesyndrome/">DiGeorge syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/fragilexsyndrome/">Fragile X syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/marfansyndrome/">Marfan syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/praderwillisyndrome/">Prader-Willi syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/severecombinedimmunodeficiency/">Severe combined immunodeficiency</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/waardenburgsyndrome/">Waardenburg syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/wernersyndrome/">Werner syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/williamssyndrome/">Williams syndrome</a>
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</div></li><li class="half_rhythm"><div>
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<a href="/books/n/gnd/zellwegersyndrome/">Zellweger syndrome</a>
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</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
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<div class="post-content"><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div><div class="small"><span class="label">Bookshelf ID: NBK22262</span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gnd/">Contents</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/A59/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/A75/" title="Next page in this title">Next ></a></div></div></div></div>
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