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Related Experiment Videos

Cleft palate and complex chromosome rearrangements.

B G Kousseff1, P Papenhausen, R L Neu

  • 1Department of Pediatrics, University of South Florida, Tampa 33612.

Clinical Genetics
|September 1, 1992
PubMed
Summary

Congenital complex chromosome rearrangements (CCR) can cause cleft lip and palate in children. Doctors should consider CCR in patients with cleft palate and other anomalies for accurate diagnosis and genetic counseling.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Genetics

Background:

  • Congenital anomalies can arise from complex chromosomal abnormalities.
  • De novo congenital complex chromosome rearrangements (CCR) involve multiple chromosome breaks and rearrangements.

Observation:

  • Two unrelated children with de novo CCR and over four breaks presented with cleft lip and palate.
  • Patient 1 had unilateral cleft palate, ectrodactyly, choanal atresia, and six breakpoints with multiple chromosomal aberrations.
  • Patient 2 exhibited bilateral cleft lip and palate, growth retardation, and six breakpoints with chromosomal deletions, translocations, and an inversion.

Findings:

  • Both patients had de novo CCR involving multiple chromosomes, suggesting a gametic "catastrophe" event.
  • Parental karyotypes were normal, indicating the rearrangements were new in the children.

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  • The identified chromosomal aberrations were stable without evidence of persistent instability.

    • Implications:

    • Cleft palate, especially with other anomalies, warrants consideration of CCR in clinical genetic evaluation.
    • Accurate cytogenetic diagnosis is crucial for prognosis, management, and genetic counseling.
    • Understanding CCR is essential for assessing lifespan, quality of life, and reproductive options for affected families.