| New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. | |
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MedLine Citation:
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PMID: 20951845 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Microdeletions of 1q41q42 have recently been classified as a syndrome. Features include significant developmental delay and characteristic dysmorphic features as well as cleft palate, clubfeet, seizures, and short stature in some individuals, with a clinical diagnosis of Fryns syndrome in two individuals with congenital diaphragmatic hernia at the severe end of the spectrum. The gene DISP1, which is involved in sonic hedgehog signaling, has been proposed as a candidate for the midline defects in this syndrome. We undertook a genotype-phenotype analysis of seven previously unreported individuals with deletions of 1q41q42 that range from 777 kb to 6.87 Mb. Three of the individuals in our cohort do not display the major features of the syndrome and have more proximal deletions that only overlap with the previously described 1q41q42 smallest region of overlap (SRO) at DISP1. One individual with several features of the syndrome has a more distal deletion that excludes DISP1. The three remaining individuals have larger deletions that include the entire SRO and demonstrate features of the microdeletion syndrome. Confounding genotype-phenotype correlations, one of the small deletions involving DISP1 was inherited from a phenotypically normal parent. DISP1 haploinsufficiency may not be solely responsible for the major features of 1q41q42 microdeletion syndrome, and other genes in the SRO likely play a role in the phenotype. Additionally, some features present in a minority of individuals, such as Pelger-Huët anomaly, may be attributed to deletions of genes outside of the SRO. |
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Authors:
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Jill A Rosenfeld; Yves Lacassie; Dima El-Khechen; Luis F Escobar; James Reggin; Carolyn Heuer; Emily Chen; Lauren S Jenkins; A Thomas Collins; Samuel Zinner; Melanie Babcock; Bernice Morrow; Roger A Schultz; Beth S Torchia; Blake C Ballif; Karen D Tsuchiya; Lisa G Shaffer |
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Publication Detail:
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Type: Journal Article Date: 2010-10-15 |
Journal Detail:
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Title: European journal of medical genetics Volume: 54 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2011 Jan-Feb |
Date Detail:
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Created Date: 2011-02-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 42-9 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Signature Genomic Laboratories, 2820 N. Astor St., Spokane, WA 99207, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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