Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

T J de Ravel; E Legius; H Brems; R Van Hoestenberghe; P H Gillis; J P Fryns

doi:10.1097/00019605-200110000-00005

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

Clin Dysmorphol. 2001 Oct;10(4):263-7. doi: 10.1097/00019605-200110000-00005.

Authors

T J de Ravel¹, E Legius, H Brems, R Van Hoestenberghe, P H Gillis, J P Fryns

Affiliation

¹ Center for Human Genetics, KU Leuven, Belgium.

PMID: 11666000
DOI: 10.1097/00019605-200110000-00005

Abstract

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.

Publication types

Case Reports

MeSH terms

Chromosome Aberrations*
Chromosomes, Human, Pair 22*
Chromosomes, Human, Pair 9*
Facial Asymmetry / genetics*
Humans
Infant, Newborn
Male
Meiosis
Mosaicism / pathology*