Chromosome 6q deletions: A report of two additional cases and a review of the literature
- 1 January 1990
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (1) , 79-84
- https://doi.org/10.1002/ajmg.1320350115
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.Keywords
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