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

Abstract

Two rare de novo structural aberrations of the Y chromosome were detected during routine prenatal diagnosis: a satellited non-fluorescent Y chromosome (Yqs), the first de novo Yqs to be reported in a fetus, and a terminal deletion of the Y chromosome long arm del(Y)(q11). In both cases detailed cytogenetic and molecular analyses were undertaken. In the case of the Yqs it was demonstrated by fluorescence in situ hybridization (FISH) that the satellites were derived from chromosome 15. In the case of the del(Yq), it was shown with molecular analysis by polymerase chain reaction (PCR) amplification 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. The clinical significance of these findings is discussed.

Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomes

“…In other cases the phenotype was reported normal [Lucas et al, 1972; Genest, 1973; Hansmann et al, 1977; Genest, 1978, 1979; Parslow et al, 1979; Varley et al, 1981; Genest et al, 1983; Van Tuinen et al, 1983; Bauld and Ellis, 1984; Mihelick et al, 1984; Schmid et al, 1984; Babu et al, 1987; Chandley et al, 1989; Elliott and Barnes, 1992; Wilkinson and Crolla, 1993; Hawks‐Arn et al, 1995; Lin et al, 1995; O'Malley et al, 1997; Shah et al, 1997; Verma et al, 1997; Reddy, 1998; Reddy and Sulcova, 1998; Corti et al, 1999; Guttenbach et al, 1999; Storto et al, 1999; Grabowski et al, 2000; Kühl et al, 2001; Velissariou et al, 2001; Willatt et al, 2001].…”

Prenatal diagnosis of interstitially satellited 6p

“…The NOR can be translocated either to a terminal region or to an interstitial region of another chromosome resulting in a terminal NOR or an interstitial NOR. Prenatal diagnosis of terminal NORs has been well described (Mihelick et al, 1984;Babu et al, 1987;Elliott and Barnes, 1992;Park et al, 1992;Habibian et al, 1994;Arn et al, 1995;Lamb et al, 1995;Miller et al, 1995;Killos et al, 1997;O'Malley et al, 1997;Shah et al, 1997;Faivre et al, 1999;Chen et al, 2000;Velissariou et al, 2001;Willatt et al, 2001). However, prenatal diagnosis of de novo interstitial NORs is very rare.…”