Premium
Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction
Author(s) -
Jakubowski L,
Jeziorowska A,
Constantinou M,
Kałużewski B
Publication year - 2000
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2000.570408.x
Subject(s) - dicentric chromosome , biology , isochromosome , karyotype , genetics , fluorescence in situ hybridization , microbiology and biotechnology , chromosome , cytogenetics , polymerase chain reaction , x chromosome , southern blot , gene
We have performed cytogenetic and molecular analyses of 45,X mosaics involving structurally abnormal Y chromosomes. Karyotypes were performed by standard cytogenetic methods and, in some cases, by fluorescence in situ hybridization, to distinguish monocentric and dicentric chromosomes. In addition, the deletions of Yq have been mapped using Southern blotting and polymerase chain reaction analysis. This paper provides additional information on the analysis of Y chromosome aberrations, and suggests that the stability of the Y chromosome in these instances is related to the site of the break point on Yq.