Translocation Y/5 resulting in Cri du Chat syndrome

P. Vignetti, L. Chessa, L. Bruni, E. Ferrante, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome.

Original languageEnglish
Pages (from-to)319-322
Number of pages4
JournalClinical Genetics
Volume12
Issue number6
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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