Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism

Abstract

We describe a 16½ -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.

• Blaschko lines
• cleft lip and palate
• fibroblasts
• trisomy 20 mosaicism