Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters.
We present cytogenetic and clinical findings in a familial case of dup(17)(q24q25.1). The duplication was transmitted from the mosaic mother to two non-mosaic daughters. This is the first report involving duplication of 17q24q25.1. Manifestations in our three patients were similar to those in previously reported cases with 17q partial duplications, but also included brachydactyly and craniosynostosis. These findings represent additional clinical characteristics of distal 17q duplication and may indicate the presence of gene(s) involved in skeletal development in this region, duplication of which may result in a phenotype resembling Ullrich-Turner syndrome.
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, MN 55905, USA.
D
D
Babovic-Vuksanovic
J A
JA
Westman
S M
SM
Jalal
N M
NM
Lindor
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D019066:Facies; D005260:Female; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities*; D008682:Metatarsal Bones / Q000002:abnormalities*; D009030:Mosaicism