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Possible hereditary Y‐chromosome instability
Author(s) -
ZENIYA ETSUKO,
IINUMA KAZUSO,
KATO MIZUKI
Publication year - 1994
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1994.tb03218.x
Subject(s) - medicine , heterochromatin , fluorescence in situ hybridization , genetics , chromosome , karyotype , cytogenetics , biology , gene
A 9 year old boy, born to a phenotypically normal, non‐consanguineous couple was referred for clinical examination due to radio‐ulnar synostosis. We made cytogenetic analyses to investigate the genotype‐phenotype correlation. Chromosomal studies on the boy and his father revealed a very small Y chromosome in both cases, probably due to loss of the heterochromatic long arm segment. Repeated cytogenetic analysis of the boy was made, using QFQ, CBG, DA/DAPI and fluorescence in situ hybridization (FISH) methods with DYZ1 and DYZ3 probes. The results showed a likely mosaicism of cell lines with either a small Y or a normal Y found in the boy. The small Y appeared to be composed of double centromeric regions, without the heterochromatic segment of the long arm of the Y chromosome. The father refused re‐analysis. These findings indicate an inherent instability of the Y chromosome resulting in a familial small Y. The radio‐ulnar synostosis may be associated with excessive Y short arms.