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Related Experiment Videos

Wolf-Hirschhorn syndrome and a split-hand malformation

M Bamshad1, J R O'Quinn, J C Carey

  • 1Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA. mike@thor.med.utah.edu

American Journal of Medical Genetics
|March 3, 1998
PubMed
Summary

This study reports ectrodactyly, a limb malformation, in a child with Wolf-Hirschhorn syndrome (WHS). This finding suggests a potential genetic link between WHS and split hand/foot malformation (SHFM).

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Clinical genetics·2016

Area of Science:

  • Genetics and Developmental Biology
  • Clinical Genetics
  • Teratology

Background:

  • Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder characterized by distinctive facial features, growth retardation, and developmental delay.
  • Ectrodactyly, also known as split hand/foot malformation (SHFM), is a congenital limb anomaly affecting the hands and feet.
  • Previous reports have not documented the co-occurrence of ectrodactyly in individuals with WHS.

Observation:

  • A fetus with ectrodactyly and hemimelia was found to have an unbalanced translocation between chromosomes 4p15 and 10q25.
  • This observation led to the mapping of a second locus for dominantly inherited SHFM (SHFM3) to chromosome 10q24-q25.
  • Clinical findings of an infant presenting with both WHS and SHFM are detailed.

Findings:

Related Experiment Videos

  • The study presents the first reported case of ectrodactyly in a child diagnosed with Wolf-Hirschhorn syndrome.
  • Genetic analysis identified an unbalanced translocation involving chromosomes 4 and 10, implicating chromosome 10q24-q25 in SHFM (SHFM3).
  • The findings suggest a potential genetic overlap or interaction between WHS and SHFM.

Implications:

  • This research expands the known phenotypic spectrum of Wolf-Hirschhorn syndrome.
  • The identification of a locus on chromosome 10q24-q25 contributes to understanding the genetic basis of split hand/foot malformation.
  • Further investigation is warranted to explore potential modifier loci on chromosome 4p that may influence the development of SHFM in WHS patients.