X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter
- 1 January 1981
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 59 (4), 290-296
- https://doi.org/10.1007/bf00295460
Abstract
An unusual case is presented of a fertile woman heterozygous for a balanced X-autosome translocation t(X;12) (q22;p12) with a break-point (Xq22) in the critical region of the X chromosome. The karyotypes of her daughter, who is infertile, and one of her two sons are 47,XXX,t(X;12)(q22;p12) and 46,XY,t(X;12)(q22;p12) respectively. The literature on balanced X-autosome translocations in males and females involving both arms of the X chromosome is reviewed. All 23 of the 36 cases of females with balanced Xq-autosome translocation, that exhibited gonadal failure have a break-point between bands Xq13 and Xq26.This publication has 61 references indexed in Scilit:
- Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.Journal of Medical Genetics, 1980
- A case of partial trisomy 17 resulting from X-autosomal translocation.Journal of Medical Genetics, 1979
- Reinvestigation of two X/autosome translocations: segregation in cell hybridsCytogenetic and Genome Research, 1978
- Spreading of inactivation in an (X;14) translocationAmerican Journal of Medical Genetics, 1978
- Replication pattern of the X chromosomes in three X/autosomal translocationsCytogenetic and Genome Research, 1977
- Presumptive evidence of two active X chromosomes in somatic cells of a human femaleNature, 1977
- X-autosome translocation in normal mother and effectively 21-monosomic daughterThe Journal of Pediatrics, 1974
- Banding patterns and autoradiographic studies of cells with an X‐autosome translocationAnnals of Human Genetics, 1973
- Possible X-autosomal translocation in a girl with gonadal dysgenesis.Journal of Medical Genetics, 1970
- EVIDENCE FOR THE EXISTENCE OF THE HUMAN "SUPER FEMALE"The Lancet, 1959