4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.
We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.
Stevenson
David A
DA
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA. David.Stevenson@hsc.edu
Carey
John C
JC
Cowley
Brett C
BC
Bayrak-Toydemir
Pinar
P
Mao
Rong
R
Brothman
Arthur R
AR
D000015:Abnormalities, Multiple / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D046228:Microarray Analysis / Q000379:methods; D010641:Phenotype; D013577:Syndrome