Concordant congenital malformations in twins with inherited translocation: t(9p-;13q+) |
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Authors: | Gurbax S. Sekhon Kutay Taysi |
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Affiliation: | (1) The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 63110 St. Louis, MO, USA;(2) Division of Medical Genetics, St. Louis Children's Hospital, 63110 St. Louis, MO, USA |
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Abstract: | Summary Several members of a family with a translocation between the short arm of chromosome 9 and the long arm of chromosome 13 (9p-;13q+) are presented. Although the translocation found in various members of the family looked alike and appeared to be balanced, the clinical features were different. The like-sex twins displayed some features of 9p monosomy syndrome, whereas their mother and maternal grandmother, who apparently had the same translocation, showed only a few features of 9p- syndrome in addition to mild mental retardation. We suggest that a minute deletion of the short arm of chromosome 9 may cause features of 9p- syndrome and that the clinical features of this syndrome in older individuals may be too mild for the clinical diagnosis to be possible. |
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