X‐short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp‐;16p+)
- 1 October 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 10 (4) , 202-207
- https://doi.org/10.1111/j.1399-0004.1976.tb00034.x
Abstract
A family demonstrating short arm deletion of the X chromosome as a consequence of X-16 balanced translocation in the mother is reported. The 2 Xp- sisters exhibit clinical signs of gonadal dysgenesis, while the balanced carriers are phenotypically normal. This represents the only example of both the balanced carrier state for an X translocation and its genetic consequence occurring in the offspring, as well as the involvement of X-16 interchange. Additional cases (37) of verified X translocations are discussed.This publication has 18 references indexed in Scilit:
- X-autosome translocation in normal mother and effectively 21-monosomic daughterThe Journal of Pediatrics, 1974
- Familial X/X translocation:t(X;X)(p22;q13)Cytogenetic and Genome Research, 1974
- Banding patterns and autoradiographic studies of cells with an X‐autosome translocationAnnals of Human Genetics, 1973
- Unbalanced X/autosomal translocation with inactivation of the normal X chromosomeCytogenetic and Genome Research, 1973
- An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometryClinical Genetics, 1972
- IDIOPATHIC HYPOPARATHYROIDISM IN A GIRL WITH TURNER'S SYNDROMEActa Paediatrica, 1972
- RAPID BANDING TECHNIQUE FOR HUMAN AND MAMMALIAN CHROMOSOMESThe Lancet, 1972
- Evidence for X/X chromosome translocation in humansAnnals of Human Genetics, 1969
- Hashimoto's thyroiditis and Turner's syndromeArchives of internal medicine (1960), 1968
- Pericentric inversion in a group D chromosome (13?15) associated with amenorrhea and gonadal dysgenesisAnnals of Human Genetics, 1967