Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 37 (1) , 97-104
- https://doi.org/10.1007/bf00293779
Abstract
A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incorporation and acridine organge staining. The reproductive impairment of balanced X/autosome translocations is discussed.Keywords
This publication has 13 references indexed in Scilit:
- Partial trisomy 4q syndrome: Case report and reviewHuman Genetics, 1976
- Aspermia, associated with a presumably balanced X/autosomal translocationHuman Genetics, 1976
- Partial trisomy 2q and familial translocation t(2;12)(q31;q24)Human Genetics, 1976
- Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.1975
- Translocation X sur autosome et replication tardiveHuman Genetics, 1975
- X-autosome translocation in normal mother and effectively 21-monosomic daughterThe Journal of Pediatrics, 1974
- [X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange].1974
- [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].1973
- [Sterility and familial t (1q-;Xq+) translocation].1972
- An inhertited X-autosome translocation in manAnnals of Human Genetics, 1971