Non‐fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism
- 1 February 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (2), 235-240
- https://doi.org/10.1111/j.1399-0004.1977.tb01306.x
Abstract
A 45,X/46,XY mosaicism was found in a male infant with stigmata of Turner''s syndrome but normal male external genitalia. In contrast to the Y chromosome of his father, the Y chromosome of the patient does not display either the characteristic brilliant fluorescence or the typical dark heterochromatin staining of the distal long arm. Furthermore, DNA replication in the abnormal Y chromosome was premature. Mechanisms leading to the observed abnormalities are discussed.This publication has 11 references indexed in Scilit:
- Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaicsHereditas, 2009
- Major regulatory genes for mammalian sexual developmentCell, 1976
- Possible role for H–Y antigen in the primary determination of sexNature, 1975
- A Boy with 46, X, del(Y) Due to a de novo MutationHuman Heredity, 1975
- Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq--)Journal of Medical Genetics, 1974
- Differential spiralization along mammalian mitotic chromosomesChromosoma, 1974
- A simple technique for demonstrating centromeric heterochromatinExperimental Cell Research, 1972
- New Technique for Distinguishing between Human ChromosomesNature New Biology, 1971
- Cytogenetical and clinical investigations in four subjects with anomalies of sexual developmentAnnals of Human Genetics, 1966