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Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.

Aswini Sivasankaran1, Ambika Srikanth2, Pooja S Kulshreshtha2

  • 1Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, India.

Molecular Syndromology
|March 30, 2016
PubMed
Summary

Split hand/foot malformation (SHFM), a limb development disorder, was identified in a girl with a 7q21.3 microdeletion. This genetic condition also presented with developmental delay and hearing loss.

Keywords:
BAC-FISHChromosomal microarrayDevelopmental delayEctrodactylyHigh-resolution bandingSHFM1

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split hand/foot malformation (SHFM), also known as ectrodactyly, is a rare genetic disorder characterized by limb malformations.
  • SHFM exhibits significant clinical and genetic heterogeneity, presenting as isolated limb defects or syndromic forms with additional anomalies.
  • Syndromic ectrodactyly can involve craniofacial, genitourinary, and ectodermal structures, alongside limb abnormalities.

Purpose of the Study:

  • To report a case of SHFM with syndromic features.
  • To characterize the genetic basis of SHFM in the presented case.
  • To discuss potential candidate genes and pathogenic mechanisms involved in SHFM.

Main Methods:

  • High-resolution chromosomal banding analysis to identify deletions.
  • Fluorescence in situ hybridization (FISH) using locus-specific BAC probes for precise deletion mapping.
  • Chromosomal microarray analysis (CMA) for high-resolution genomic profiling.

Main Results:

  • The study identified an interstitial deletion within the 7q21 band in a patient with SHFM.
  • FISH and CMA confirmed a microdeletion in the 7q21.3 region.
  • Further analysis revealed a larger 8.44-Mb deletion encompassing 7q21.11q21.2, with refined breakpoints.

Conclusions:

  • The findings highlight the genetic heterogeneity of SHFM and the role of 7q21 deletions in its pathogenesis.
  • The patient's phenotype, including developmental delay and sensorineural hearing loss, is associated with the identified chromosomal deletion.
  • Further investigation into candidate genes within the deleted region is warranted to elucidate the molecular mechanisms underlying SHFM.