Balanced rearrangement of chromosomes 2, 5 and 13 in a family with duplication 5q and fetal loss

M. I. Evans, B. J. White, S. G. Kent, M. A. Levine, S. W. Levin, J. W. Larsen

Research output: Contribution to journalArticlepeer-review

Abstract

We have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangement involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.

Original languageEnglish (US)
Pages (from-to)783-790
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume19
Issue number4
DOIs
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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