Partial trisomy 14 (q23→qter) via segregation of a 14/X translocation

M. M. Cohen, J. Charrow, N. E. Balkin, C. J. Harris

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


An infant with delayed development and multiple congenital anomalies was found to possess a duplication of 14q23→qter. This imbalance arose through segregation of a maternal 14/X translocation, observed in only 28% of the mother's cells. Although the X-chromosome-derived portion of the translocation was late replicating in the proposita, the autosomal segment was not inactivated, leading to functional trisomy for distal 14q. Phenotypic comparison cases with similar duplications does not allow the clinical description of a partial trisomy syndrome.

Original languageEnglish (US)
Pages (from-to)635-644
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - Jan 1 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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