4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations.
Duplications of 4q31-qter have been rarely documented; moreover, triplications at this chromosomal region have never been described. Here we report a family through two generations (mother and three sons) with triplication of 4q32.1-q32.2. Their characteristic features include: macrocephaly, a long midface, hypoplastic zygoma, wide nasal bridge, short nose, downslanting and small palpebral fissures, and small, low-set and squared-off ears. Among the three sons, two had Hirschsprung disease, and one had constipation at birth. The phenotype of triplication of 4q32.1-q32.2 appeared to be distinct from duplications of 4q31-qter.
Wang
Jia-Chi
JC
Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. wangj@hhsc.ca
Fisker
Thomas
T
Dang
Linda
L
Teshima
Ikuko
I
Nowaczyk
Małgorzata J M
MJ
D000328:Adult; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics; D005190:Family; D005191:Family Characteristics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male