8q23-q24 duplication--further delineation of a rare chromosomal abnormality.
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.
Wheeler
Patricia G
PG
Division of Genetics, Nemours Children's Clinic, Orlando, Florida 32806, USA. pwheeler@nemours.org
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008957:Models, Genetic