Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndrome.
We report on the clinical phenotype of an infant with a duplication of the terminal portion of the long arm of chromosome 3(q26.3-qter) and a deletion of the terminal portion of the short arm of chromosome 4(p16.3) with multiple hemangiomas and a hamartoma. Patients with deletions of distal 4p have the characteristic features of Wolf-Hirschhorn syndrome (WHS); whereas those with the distal duplication of 3q have a well recognized syndrome with some features resembling Cornelia-de Lange syndrome (CdLS). Neither of these recognized chromosomal anomalies has been reported previously to be associated with multiple hemangiomas or other vascular malformations.
Pardo
Sherly
S
Genetic & Genomic Sciences, Mount Sinai Medical Center, New York, New York 10029, USA. sherly.pardo@mssm.edu
Blitman
Netta
N
Han
Bokyung
B
Cohen
Ninette
N
Edelmann
Lisa
L
Hirschhorn
Kurt
K
D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D006391:Hemangioma / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics