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Familial Williams-Beuren syndrome

K Ounap1, P Laidre, O Bartsch

  • 1Medical Genetics Center, Tartu University Children's Hospital, Estonia. kati@dna.cut.ee

American Journal of Medical Genetics
|January 8, 1999
PubMed
Summary
This summary is machine-generated.

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Familial Williams-Beuren syndrome (WBS) is rare. This report details a mother and son with WBS, highlighting genetic confirmation and uncommon WBS traits in this family.

Area of Science:

  • Genetics
  • Medical Genetics
  • Human Genetics

Background:

  • Williams-Beuren syndrome (WBS) is a rare genetic disorder typically occurring sporadically.
  • While most cases are de novo, familial transmission of WBS has been documented in a limited number of instances.

Observation:

  • This study presents a case of a mother and son diagnosed with typical Williams-Beuren syndrome.
  • The son's WBS diagnosis was confirmed via fluorescence in situ hybridization (FISH), revealing a 7q11.23 deletion at the ELN locus.
  • The mother, though not studied by FISH due to her passing, exhibited clear clinical symptoms consistent with WBS.

Findings:

  • The genetic analysis confirmed a deletion of 7q11.23 at the ELN locus in the affected son.
  • Uncommon WBS features were noted: unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son.

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Implications:

  • This familial case contributes to the understanding of WBS inheritance patterns.
  • The presence of atypical features in this family may broaden the clinical spectrum recognized for Williams-Beuren syndrome.
  • Further research into familial WBS cases can elucidate genetic modifiers and phenotypic variability.