Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

doi:10.3343/alm.2017.37.6.563

Case Reports

. 2017 Nov;37(6):563-565.

doi: 10.3343/alm.2017.37.6.563.

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

Hae Yeon Park¹, Myungshin Kim^{2

3}, Woori Jang^{2

3}, Dae Hyun Jang⁴

Affiliations

¹ Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea.
² Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
³ Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.
⁴ Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea. dhjangmd@naver.com.

PMID: 28841002
PMCID: PMC5587837
DOI: 10.3343/alm.2017.37.6.563

Case Reports

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

Hae Yeon Park et al. Ann Lab Med. 2017 Nov.

. 2017 Nov;37(6):563-565.

doi: 10.3343/alm.2017.37.6.563.

Authors

Hae Yeon Park¹, Myungshin Kim^{2

3}, Woori Jang^{2

3}, Dae Hyun Jang⁴

Affiliations

¹ Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea.
² Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
³ Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.
⁴ Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea. dhjangmd@naver.com.

PMID: 28841002
PMCID: PMC5587837
DOI: 10.3343/alm.2017.37.6.563

No abstract available

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Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

**Fig. 1. Brain magnetic resonance imaging revealing corpus callosum thinning (marked as an arrow).**

**Fig. 2. Comparative genomic hybridization of chromosome 1 in the patient. Breakpoints were revealed in 1p36.11-p35.3 (27,750,155–28,754,771).**

See this image and copyright information in PMC

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References

1. Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015;8:189–200. - PMC - PubMed
1. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72:1200–1212. - PMC - PubMed
1. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, et al. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007;72:329–338. - PubMed
1. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014;94:784–789. - PMC - PubMed

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[1] Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015;8:189–200. - PMC - PubMed

[2] Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015;8:189–200. - PMC - PubMed

[3] Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72:1200–1212. - PMC - PubMed

[4] Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72:1200–1212. - PMC - PubMed

[5] Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, et al. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007;72:329–338. - PubMed

[6] Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, et al. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007;72:329–338. - PubMed

[7] Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014;94:784–789. - PMC - PubMed

[8] Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014;94:784–789. - PMC - PubMed

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Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

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Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

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