Morphologic variants in parents of children with malformation syndromes

Are they indicators of somatic mosaicism?

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.

Original languageEnglish
Pages (from-to)114-116
Number of pages3
JournalClinical Genetics
Volume38
Issue number2
Publication statusPublished - 1990

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Mosaicism
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Keywords

  • Dysmorphology
  • Germline mosaicism
  • Malformation syndromes
  • Morphologic variants
  • Somatic mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "Morphologic variants in parents of children with malformation syndromes: Are they indicators of somatic mosaicism?",
abstract = "The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.",
keywords = "Dysmorphology, Germline mosaicism, Malformation syndromes, Morphologic variants, Somatic mosaicism",
author = "K. M{\'e}hes and G. Kosztol{\'a}nyi",
year = "1990",
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volume = "38",
pages = "114--116",
journal = "Clinical Genetics",
issn = "0009-9163",
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AB - The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.

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KW - Germline mosaicism

KW - Malformation syndromes

KW - Morphologic variants

KW - Somatic mosaicism

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