Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism.
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.
Strømme
Petter
P
Department of Pediatrics, Ullevål University Hospital, Oslo, Norway. petter.stromme@medisin.uio.no
van der Hagen
Carl Birger
CB
Haakonsen
Monika
M
Risberg
Knut
K
Hennekam
Raoul
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D010859:Pigmentation Disorders / Q000235:genetics; D014314:Trisomy / Q000235:genetics