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Related Experiment Videos

Distal 5q deletion syndrome: phenotypic correlations.

I A Schafer1, N H Robin, J J Posch

  • 1Department of Pediatrics/Genetics, MetroHealth Medical Center, Cleveland, Ohio 44109, USA. ischafer@metrohealth.org

American Journal of Medical Genetics
|September 20, 2001
PubMed
Summary

Two brothers with partial 5q deletion experienced developmental delays and congenital anomalies, including heart defects. This rare genetic condition highlights the impact of chromosome 5 abnormalities on development.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Partial monosomy of chromosome 5 (5q deletion) is a rare chromosomal abnormality associated with developmental and congenital anomalies.
  • Understanding the specific genetic underpinnings of 5q deletions is crucial for diagnosis and potential therapeutic strategies.

Observation:

  • Two male siblings presented with distinct phenotypes resulting from a maternally derived partial monosomy of chromosome 5.
  • Affected individuals exhibited microcephaly, facial anomalies, central nervous system (CNS) malformations, and cardiac septal defects (atrial septal defect and ventricular septal defect).
  • Specific breakpoints in the 5q deletion were identified, differing from previously reported cases.

Findings:

  • Both siblings displayed developmental delay and facial anomalies, consistent with other reported cases of 5q deletions.

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  • Cardiac septal defects were present in both patients, with a potential link to the deletion of the cardiac-specific hCSX gene, as evidenced by its single copy in affected individuals.
  • While CNS and cardiac issues are noted, other phenotypic components remain unlinked to currently identified genes within the deleted segments.

    • Implications:

    • This study expands the known spectrum of phenotypes associated with 5q deletions, particularly those distal to 5q33.
    • The findings suggest a role for the hCSX gene in the etiology of cardiac septal defects in this patient cohort.
    • Further research is needed to identify other genes within the deleted 5q segments that contribute to the observed developmental and congenital anomalies.