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Trisomy 21 with XYY.

Ramesh C Parmar1, Mamta N Muranjan, Savita Swami

  • 1The Genetic Division, Department of Pediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai, India. rameshparmar@yahoo.com

Indian Journal of Pediatrics
|December 31, 2002
PubMed
Summary

This report details a rare case of double aneuploidy involving chromosome 21 and Y in an infant with developmental delay. The study highlights the importance of chromosomal analysis even in suspected Down syndrome cases.

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Area of Science:

  • Genetics
  • Human Biology

Background:

  • Double aneuploidy, specifically involving chromosome 21 (Down syndrome) and sex chromosomes (like XYY), represents a rare genetic condition.
  • Understanding these complex chromosomal abnormalities is crucial for accurate diagnosis and management.

Observation:

  • A case of an eight-month-old infant presenting with developmental delay and failure to thrive is described.
  • The infant exhibited classical phenotypical features of trisomy 21, with the notable exception of epicanthal folds.
  • Cytogenetic analysis using G-banding confirmed a double aneuploidy involving chromosome 21 and the Y chromosome.

Findings:

  • The literature review identified only 17 previously reported cases of XYY and trisomy 21 co-occurrence.
  • This specific genetic combination has not been previously documented in Indian literature.
  • The patient also presented with cardiac anomalies, including atrial and ductal level left-to-right shunts and tricuspid regurgitation.

Implications:

  • The co-occurrence of trisomy 21 and XYY syndrome necessitates a thorough chromosomal evaluation, even in cases with seemingly typical Down syndrome features.
  • The rarity of this condition makes it challenging to establish definitive incidence, phenotype, and recurrence risks.
  • Further research is needed to elucidate the potential interactions between trisomy 21 and XYY syndrome and their combined impact on phenotype.

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