TY - JOUR
T1 - Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism
AU - Strømme, Petter
AU - van der Hagen, Carl Birger
AU - Haakonsen, Monika
AU - Risberg, Knut
AU - Hennekam, Raoul
PY - 2005
Y1 - 2005
N2 - 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
AB - 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
U2 - https://doi.org/10.1080/02844310510006141
DO - https://doi.org/10.1080/02844310510006141
M3 - Article
C2 - 16019751
SN - 0284-4311
VL - 39
SP - 178
EP - 179
JO - Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi
JF - Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi
IS - 3
ER -