Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism.
作者信息
Strømme Petter, van der Hagen Carl Birger, Haakonsen Monika, Risberg Knut, Hennekam Raoul
机构信息
Department of Pediatrics, Ullevål University Hospital, Oslo, Norway.
出版信息
Scand J Plast Reconstr Surg Hand Surg. 2005;39(3):178-9. doi: 10.1080/02844310510006141.
PMID:16019751
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.
摘要
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