| Literature DB >> 16019751 |
Petter Strømme1, Carl Birger van der Hagen, Monika Haakonsen, Knut Risberg, Raoul Hennekam.
Abstract
We describe a 16(1/2) -year-old girl with multiple anomalies including cleft lip and palate and a normal karyotype in blood lymphocytes. Because of hyperpigmention along the lines of Blaschko, her karyotype in skin fibroblasts was examined, which showed mosaicism for trisomy 20. This is the first report to our knowledge of this karyotype where hyperpigmentation and facial clefting occurred together.Entities:
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Year: 2005 PMID： 16019751 DOI： 10.1080/02844310510006141
Source DB: PubMed Journal: Scand J Plast Reconstr Surg Hand Surg ISSN： 0284-4311