8q23-q24 duplication--further delineation of a rare chromosomal abnormality

American Journal of Medical Genetics. Part a
Patricia G Wheeler

Abstract

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.

Citations

Oct 6, 2011·European Journal of Medical Genetics·D ConcolinoP Strisciuglio
Jul 31, 2013·American Journal of Medical Genetics. Part a·Ascensión Vera-CarbonellIsabel López-Expósito
Oct 2, 2015·Case Reports in Radiology·Matthew T Whitehead, Bonmyong Lee
Dec 17, 2014·Case Reports in Dentistry·Regina Ferreira RezekCibele Velloso-Rodrigues
May 30, 2019·Cytogenetic and Genome Research·Valentina BruniDaniela Concolino

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