Interstitial 15q deletion without a classic Prader-Willi phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference16 articles.
1. Proximal 15q variant with normal phenotype in three unrelated individuals
2. Forty four probands with an additional ?marker? chromosome
3. Polymorphic variants in human chromosome 15
4. Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes
5. Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature
Cited by 17 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation;Cytogenetic and Genome Research;2019
2. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot;Taiwanese Journal of Obstetrics and Gynecology;2016-04
3. Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: Report and a review of literature;American Journal of Medical Genetics Part A;2013-04-30
4. Chromosomes and the Skin;Harper's Textbook of Pediatric Dermatology;2011-05-24
5. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome;Orphanet Journal of Rare Diseases;2011
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