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Chromosome 6q deletions: A report of two additional cases and a review of the literature

1990; Wiley; Volume: 35; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320350115

1096-8628

D. Ross McLeod, S. B. Fowlow, A. S. Robertson, D. Samcoe, I. Burgess, Joe J. Hoo,

Gastrointestinal Tumor Research and Treatment

Abstract 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.