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 - 1972

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Chromosome Aberrations
Trisomy
Aneuploidy
Fibroblasts

Keywords

  • Chromosomal mosaicism
  • Unilateral congenital malformations

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Unilateral congenital malformations with chromosome aberration. / Schuler, D.; Ferenczi, I.; Görgényi; Dobos, M.; Fekete, G.; Ruzicsk, R.

In: Human Heredity, Vol. 22, No. 2, 1972, p. 198-203.

Research output: Contribution to journalArticle

Schuler, D, Ferenczi, I, Görgényi, Dobos, M, Fekete, G & Ruzicsk, R 1972, 'Unilateral congenital malformations with chromosome aberration', Human Heredity, vol. 22, no. 2, pp. 198-203. https://doi.org/10.1159/000152488
Schuler, D. ; Ferenczi, I. ; Görgényi ; Dobos, M. ; Fekete, G. ; Ruzicsk, R. / Unilateral congenital malformations with chromosome aberration. In: Human Heredity. 1972 ; Vol. 22, No. 2. pp. 198-203.
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