A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1
- 1 November 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 86 (1) , 94-98
- https://doi.org/10.1007/bf00205184
Abstract
A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45.X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.Keywords
This publication has 24 references indexed in Scilit:
- Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11Human Genetics, 1988
- A Y/5 translocation in a 45,X male with cri du chat syndromeHuman Genetics, 1987
- The origin and phenotype of XO malesHuman Genetics, 1987
- Molecular detection of a translocation (Y;15) in a 45,X maleHuman Genetics, 1986
- A 45,X male with evidence of a translocation of Y euchromatin onto chromosome 15Human Genetics, 1985
- Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridizationChromosoma, 1981
- Male with 45, X karyotypeClinical Genetics, 1977
- High Resolution of Human ChromosomesScience, 1976
- Robertsonian translocation between the chromosome Y and 15Human Genetics, 1974
- XO and Male PhenotypeArchives of Pediatrics & Adolescent Medicine, 1974