Partial trisomy 13 with features similar to C syndrome

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Shubha R Phadke1, S J Patil

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ac.in

Indian Pediatrics
|July 6, 2004
PubMed

Insights

A child presented with partial trisomy 13, a condition causing specific physical features and developmental delay. This occurred due to a chromosomal rearrangement inherited from a carrier mother, highlighting the importance of genetic counseling.

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Partial trisomy 13 is a rare chromosomal abnormality.
  • Pericentric inversions can lead to unbalanced rearrangements in offspring.
  • Accurate genetic diagnosis is crucial for understanding phenotypic outcomes.

Observation:

  • A case of partial trisomy 13 was identified.
  • The proband exhibited trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of the right kidney, and mild developmental delay.
  • The mother, phenotypically normal, carried a pericentric inversion of chromosome 13.

Findings:

  • The child inherited a recombinant chromosome 13 from the mother.
  • This recombinant chromosome resulted in partial trisomy 13 in the proband.
  • The mother's balanced inversion was the source of the unbalanced segregation.

Implications:

  • Early genetic diagnosis and counseling are vital for families with chromosomal abnormalities.
  • Prenatal testing and carrier screening are recommended for at-risk relatives.
  • Understanding the mechanism of recombination in inversions aids in predicting reproductive risks.

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