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  • Title: Chromosome 6q deletions: a report of two additional cases and a review of the literature.
    Author: McLeod DR, Fowlow SB, Robertson A, Samcoe D, Burgess I, Hoo JJ.
    Journal: Am J Med Genet; 1990 Jan; 35(1):79-84. PubMed ID: 2405671.
    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.
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