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8q23‐q24 duplication—further delineation of a rare chromosomal abnormality
Author(s) -
Wheeler Patricia G.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33237
Subject(s) - hypertelorism , gene duplication , comparative genomic hybridization , karyotype , abnormality , girl , biology , medicine , anatomy , genetics , chromosome , gene , psychiatry
Presented here is a young girl with a rare interstitial duplication of 8q23.3‐q24.21. At birth, unusual facial features led to karyotype analysis with a finding of increased material in 8q. Specific determination of where the extra material came from required comparative genomic hybridization (CGH). The affected girl has dysmorphic facial features including hypertelorism, a wide nasal bridge, retrognathia, hyperopic astigmatism, hirsutism, and developmental delay. The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases. © 2010 Wiley‐Liss, Inc.