Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis

Two rare de novo structural aberrations of the Y chromosome were detected d uring routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal del etion of the Y chromosome long arm del(Y)(q11). In both cases detailed cyto genetic and molecular analyses were undertaken. In the case of the Yqs it w as demonstrated by fluorescence in situ hybridization (FISH) that the satel lites were derived from chromosome 15. In the case of the del(Yq), it was s hown with molecular analysis by polymerase chain reaction (PCR) amplificati on of sequence-tagged sites (STS-PCR) that the deleted portion of the long arm of chromosome Y included the azoospermia factor loci, AZFb and AZFc. Th e clinical significance of these findings is discussed. Copyright (C) 2001 John Wiley & Sons, Ltd.