Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

C. T. Masada, A. H. Olney, R. Fordyce, W. G. Sanger

Research output: Contribution to journalArticle

33 Scopus citations

Abstract

The propositus and a subsequently born sister presented with multiple congenital anomalies. Chromosome analyses were performed initially on peripheral blood lymphocytes from the propositus and his parents: the propositus was found to have a deletion of chromosome 14 (q32.11->qter); the parents' chromosomes were normal. When the sister of the propositus was born, she was determined to have a duplication of an equivalent segment of 14qter. Chromosome studies on the parents' fibroblasts demonstrated no structural abnormality or mosaicism. The parents have an older, phenotypically normal, healthy daughter, which supports mosaicism for intragonadal t(14;14)(q32.11;q32.33) in one parent. Chromosome polymorphism comparisons show that the normal number 14 chromosome in the propositus and his sister was inherited from the mother, thus indicating paternal testicular mosaicism. Clinical findings are compared to those of other reported cases of deletion 14q and duplication 14q.

Original languageEnglish (US)
Pages (from-to)528-534
Number of pages7
JournalAmerican journal of medical genetics
Volume34
Issue number4
DOIs
StatePublished - 1989

Keywords

  • chromosome 14
  • germinal mosaicism
  • intragonadal mosaicism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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