3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring

D. Abeliovich, P. Yagupsky, N. Bashan

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndrome and coloboma of the iris O.U.

Original languageEnglish
Pages (from-to)83-89
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume12
Issue number1
DOIs
StatePublished - 1 Jan 1982
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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