Interstitial deletion of chromosome 2p16.2p21.
We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). This is the first report of a deletion in chromosome 2 involving those particular breakpoints. We propose that this may represent a new recognizable chromosomal phenotype.
Sanders
S R
SR
Section of Genetics and Metabolism, Department of Pediatrics, Child Health, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada. srsanders@hsc.mb.ca
Dawson
A J
AJ
Vust
A
A
Hryshko
M
M
Tomiuk
M
M
Riordan
D
D
Prasad
C
C
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant