Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation.

Clinical Dysmorphology
Sabine A Knauer-FischerBerthold P Hauffa

Abstract

We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice. In one sample an additional marker chromosome was found in one of 53 analysed metaphases, which could not be further characterized, whereas a second investigation showed a normal female karyotype. Cytogenetic studies in skin fibroblasts revealed a mosaic trisomy 15. Although mosaic trisomy 15 is a rare finding the diagnosis must be considered in the presence of pigmentary changes, body asymmetry, short stature and other minor dysmorphic signs even if blood karyotype is normal.

References

Oct 1, 1992·Journal of Medical Genetics·C P BennettM J Seller
Jan 1, 1991·American Journal of Perinatology·J A Kuller, S A Laifer
Apr 1, 1983·Journal of Medical Genetics·J ChemkeR Etrog
Apr 1, 1981·Journal of Medical Genetics·S ColdwellC Bateman
Sep 1, 1994·Journal of Medical Genetics·C G WoodsD Wellesley
Jan 22, 1996·American Journal of Medical Genetics·J M MilunskyA Milunsky
Feb 2, 1996·American Journal of Medical Genetics·V D MarkovicE M Hutton
Mar 15, 1996·American Journal of Medical Genetics·E M BühlerN Bösch
Dec 14, 1999·American Journal of Medical Genetics·E MagenisJ M Opitz
Aug 5, 2000·American Journal of Medical Genetics·E OlanderE A Wulfsberg
Nov 6, 2001·Annales de génétique·M Gérard-BlanluetJ C Janaud

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Citations

Mar 5, 2015·American Journal of Medical Genetics. Part a·Jacob McPaddenSamantha A Schrier Vergano

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