Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome

Abstract

Cytogenetic analysis of the products of conception in a pregnancy at risk for Bloom's syndrome (BS) documented the karyotype 49,XX, +2, +8, +11. Autosomal triple trisomy has previously been reported in abortuses but is exceedingly rare. Other interesting but previously unreported observations made during the present study were the following: BS in a Brazilian individual, the first instance of BS diagnosed in South America; transmission of the BS mutation in Jews that are non-Ashkenazi; a medulloblastoma in the propositus, the first malignant brain tumor reported in BS; and, as in all previously examined pregnancies at risk for BS, non-homozygosity for the BS mutation.

Rapid prenatal diagnosis of 14 cases of triploidy using fish with multiple probes

“…The observation of three nuclear signals following hybridizations with multiple probes suggests two possible interpretations: either the presence of triploidy or multiple trisomy for all of the chromosomes analysed (Christensen et al, 1992). Although triple trisomy has been reported in spontaneous abortions (Warburton et al, 1980;Chavarro et al, 1990;Petrilla et al, 1991;Soukup, 1992;Ryan et al, 1992), neither triple trisomy involving chromosomes 13, 18, and 21 nor quadruple trisomy has been reported. Therefore, when all of the probes utilized in our programme produce three signals, an interpretation of the presence of fetal triploidy is justified.…”

Genetic Predisposition to Solid Pediatric Cancers

“…Patients with germline TP53 mutations can have tumors characterized by catastrophic DNA chromothripsis and are often associated with Li-Fraumeni syndrome (LFS), a cancer predisposition disorder caused by germline mutations of the tumor-suppressor p53 (71). Other MB-associated syndromes are Bloom's syndrome (31), ataxia telangiectasia (18), and Greig's cephalopolysyndactyly syndrome (14,40,45,85,122) (Table 2).…”

Triple trisomy in a spontaneous abortion

“…In another report mosaic 46,XX/49,XX,+6,+21,+22 was confined to the chorionic villi sample, and the newborn was normal 46,XX (Kennerknecht and Terinde 1990). We are adding three other references to triple trisomy: a hydatidiform mole with 4 9 , X Y , + 8 , + 1 3 , + 1 8 (Chavarro et al 1990), a 10-week abortus with 49,XX, + 14, + 15, +22 (Hassold et al 1984), and a 9-week abortus with 4 9 , X X , + 2 , + 8 , + 11 (Petrella et al 1991). Nevertheless, triple trisomy must be rare since no cases were seen in 3,300 analyzed abortuses (Warburton et al 1991).…”