Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.
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.
Petrella
R
R
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029.
Hirschhorn
K
K
German
J
J
D000022:Abortion, Spontaneous; D000328:Adult; D001816:Bloom Syndrome / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D001938:Brazil; D002528:Cerebellar Neoplasms / Q000235:genetics; D002675:Child, Preschool; D002823:Chorion / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007585:Jews / Q000235:genetics; D007621:Karyotyping; D008527:Medulloblastoma / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012854:Sister Chromatid Exchange; D014314:Trisomy