Down syndrome with unusual chromosome translocation: Case report and review

L. Bruni, R. Capolino, M. C. Tozzi, F. Colloridi, M. P. Smacchia

Research output: Contribution to journalArticlepeer-review

Abstract

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11;q21), + der (5) t(5;21). The mother's karyotype was 46, XX, der (5) t(5,21) (q11;q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

Original languageEnglish
Pages (from-to)240-242
Number of pages3
JournalAnnales de Genetique
Volume39
Issue number4
Publication statusPublished - 1996

Keywords

  • Familial
  • t(5;21)
  • Trisomy 21

ASJC Scopus subject areas

  • Genetics

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