Phenotypic variability of distal 22q11.2 copy number abnormalities.

Am J Med Genet A 2011 Jul 10;155A(7):1623-33. Epub 2011 Jun 10.

Genetic Health Services Victoria, Melbourne, Australia.

The availability of microarray technology has led to the recent recognition of copy number abnormalities of distal chromosome 22q11.2 that are distinct from the better-characterized deletions and duplications of the proximal region. This report describes five unrelated individuals with copy number abnormalities affecting distal chromosome 22q11.2. We report on novel phenotypic features including diaphragmatic hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome. We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter- and intra-familial phenotypic variability, and challenge our ability to draw meaningful genotype-phenotype correlations.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34051DOI Listing
July 2011
31 Reads

Publication Analysis

Top Keywords

copy number
16
distal chromosome
16
number abnormalities
16
chromosome 22q112
16
associated distal
8
abnormalities distal
8
22q112 copy
8
phenotypic variability
8
distal
7
22q112
5
hernia uterine
4
abnormalities exhibit
4
uterine didelphys
4
distal microdeletion
4
didelphys associated
4
diaphragmatic hernia
4
novel phenotypic
4
22q112 report
4
individuals copy
4
unrelated individuals
4

Similar Publications