Unilateral congenital malformations with chromosome aberration

D. Schuler, I. Ferenczi, Görgényi, M. Dobos, G. Fekete, R. Ruzicsk

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

A 1-year-old boy is described with multiple congenital anomalies localised mainly on the left side of the body. In fibroblast culture taken from this (abnormal) side an E-trisomy was found in 82% of the cells while in the cultures taken from the other side of the body aneuploidy was found in only 12% of the cells. Some cytogenetical questions concerning this case and two similar cases published earlier in the literature are discussed.

Original languageEnglish
Pages (from-to)198-203
Number of pages6
JournalHuman heredity
Volume22
Issue number2
DOIs
Publication statusPublished - Jan 1 1972

Keywords

  • Chromosomal mosaicism
  • Unilateral congenital malformations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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