Distal deletion of the long arm of chromosome 6: a specific phenotype?
We report on an 8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3----6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.
Fryns
J P
JP
Bettens
W
W
Van den Berghe
H
H
D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000235:genetics; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic