Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring

Robert-Jan H Galjaard, Herma C van der Linde, Bert H J Eussen, Bert B A de Vries, Cokkie H Wouters, Ben A Oostra, Esther de Graaff, Peter Heutink

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.

Original languageEnglish
Pages (from-to)168-73
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume121A
Issue number2
DOIs
Publication statusPublished - 30 Aug 2003
Externally publishedYes

Bibliographical note

Copyright 2003 Wiley-Liss, Inc.

Keywords

  • Abnormalities, Multiple/genetics
  • Adolescent
  • Chromosome Disorders/genetics
  • Chromosomes, Human, Pair 4
  • Chromosomes, Human, Pair 7
  • Fathers
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability/genetics
  • Karyotyping
  • Male
  • Mosaicism
  • Phenotype
  • Polydactyly/genetics
  • Translocation, Genetic/genetics

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