Chromosome 6q deletions: a report of two additional cases and a review of the literature.
Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.
McLeod
D R
DR
Division of Medical Genetics, Faculty of Medicine, University of Alberta, Calgary, Canada.
Fowlow
S B
SB
Robertson
A
A
Samcoe
D
D
Burgess
I
I
Hoo
J J
JJ
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012160:Retina / Q000002:abnormalities