Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.
We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error.
de Ravel
T J
TJ
Center for Human Genetics, KU Leuven, Belgium.
Legius
E
E
Brems
H
H
Van Hoestenberghe
R
R
Gillis
P H
PH
Fryns
J P
JP
D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005146:Facial Asymmetry / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008540:Meiosis; D009030:Mosaicism / Q000473:pathology*