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 journalArticle

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

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Down Syndrome
Chromosomes
Karyotype

Keywords

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

ASJC Scopus subject areas

  • Genetics

Cite this

Bruni, L., Capolino, R., Tozzi, M. C., Colloridi, F., & Smacchia, M. P. (1996). Down syndrome with unusual chromosome translocation: Case report and review. Annales de Genetique, 39(4), 240-242.

Down syndrome with unusual chromosome translocation : Case report and review. / Bruni, L.; Capolino, R.; Tozzi, M. C.; Colloridi, F.; Smacchia, M. P.

In: Annales de Genetique, Vol. 39, No. 4, 1996, p. 240-242.

Research output: Contribution to journalArticle

Bruni, L, Capolino, R, Tozzi, MC, Colloridi, F & Smacchia, MP 1996, 'Down syndrome with unusual chromosome translocation: Case report and review', Annales de Genetique, vol. 39, no. 4, pp. 240-242.
Bruni, L. ; Capolino, R. ; Tozzi, M. C. ; Colloridi, F. ; Smacchia, M. P. / Down syndrome with unusual chromosome translocation : Case report and review. In: Annales de Genetique. 1996 ; Vol. 39, No. 4. pp. 240-242.
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