Double non-disjunction in maternal meiosis II giving rise to a fetus with 48, XXX, + 21

Vicki M. Park*, Ralph R. Bravo, Lee P. Shulman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

We describe a prenatally detected case of double trisomy involving chromosome 21 and the X chromosome (48, XXX, + 21) along with determination of the segregation errors responsible for the double aneuploidy. The patient was ascertained as a result of an abnormal maternal serum analyte screen showing an increased risk for fetal Down's syndrome. Following determination of the abnormal karyotype, pregnancy termination was elected. Microsatellite polymorphisms and cytogenetic heteromorphisms were used to determine that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. These results support hypotheses that a segregation defect at a cellular level may cause non-disjunction involving more than one chromosome.

Original languageEnglish (US)
Pages (from-to)650-653
Number of pages4
JournalJournal of medical genetics
Volume32
Issue number8
DOIs
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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