Concordant congenital malformations in twins with inherited translocation: t(9p-;13q+)
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 50 (3) , 271-276
- https://doi.org/10.1007/bf00399392
Abstract
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.This publication has 4 references indexed in Scilit:
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- Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 casesClinical Genetics, 1977
- Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12)Clinical Genetics, 1977
- Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.1973