Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome.
We report on an infant with Robin sequence; mild developmental delay; a left ulnar ray defect with absent ulna and associated metacarpals, carpals and phalanges; and a right ulnar nerve hypoplasia. He had a de novo interstitial deletion of 4q32-->q34. The critical region involved in the 4q terminal deletion syndrome may be 4q33. This conclusion was suggested by showing that del(4)(q31qter), del(4)(q32qter), and del(4)(q33qter) result in a similarly severe phenotype. In addition, we propose that genes for distal arm development, in particular for development of the left ulnar ray, central nervous system development, and cleft lip and palate, may be located at 4q33.
Keeling
S L
SL
Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. keelings@cryptic.rch.unimelb.edu.au
Lee-Jones
L
L
Thompson
P
P
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities* / Q000000981:diagnostic imaging