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.
Division of Medical Genetics, Faculty of Medicine, University of Alberta, Calgary, Canada.
D R
DR
McLeod
S B
SB
Fowlow
A
A
Robertson
D
D
Samcoe
I
I
Burgess
J J
JJ
Hoo
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