Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia.
Open Access
- 1 June 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (3) , 232-236
- https://doi.org/10.1136/jmg.15.3.232
Abstract
A newborn child with ambiguous external genitalia had evidence of internal female development on the left and internal male development on the right. Blood chromosome analysis showed three cell types: 45,X; 46,XY with the Y being submetacentric and about twice the usual size with two 'centromeric' C bands; and 46,X,dic(Y). Chromosome studies from the skin, uterus, and Fallopian tube showed almost exclusively 45,X cells. This represents the second reported patient in whom two centromeres are inconsistently expressed though present as shown by two 'centromeric' C bands.Keywords
This publication has 15 references indexed in Scilit:
- 45, XO/46, XYq dic mosaicism in a patient with ambiguous genitaliaClinical Genetics, 2008
- H-Y Antigen: Behavior and FunctionScience, 1977
- Expression of H-Y Antigen in Human Males with Two Y ChromosomesNew England Journal of Medicine, 1975
- Y-Linked Genes and Male-Sex DeterminationNew England Journal of Medicine, 1975
- Serum 17-α-hydroxyprogesterone, progesterone, estradiol, and testosterone in the diagnosis and management of congenital adrenal hyperplasiaThe Journal of Pediatrics, 1974
- Human Dicentric Y Chromosomes: Case Report and Review of the LiteratureJournal of Medical Genetics, 1973
- Structural aberrations of the Y chromosome and the corresponding phenotypePublished by Springer Nature ,1973
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- Identification of human chromosomes by DNA-binding fluorescent agentsChromosoma, 1970