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Trisomy 22 and intersex

R M Nicholl1, L Grimsley, L Butler

  • 1Neonatal Unit, St. Bartholomew's Hospital at Homerton, Hackney, London.

Archives of Disease in Childhood. Fetal and Neonatal Edition
|July 1, 1994
PubMed
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Trisomy 22 is a distinct syndrome. This case presents a male infant with female internal organs and trisomy 22 (47,XX+22), highlighting a rare presentation of this genetic condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Trisomy 22, characterized by an extra copy of chromosome 22, is a recognized genetic syndrome.
  • This condition can occur with or without mosaicism, meaning not all cells in the body have the extra chromosome.

Purpose of the Study:

  • To report a unique case of trisomy 22 in an infant with ambiguous genitalia.
  • To describe the clinical and cytogenetic findings in this specific patient.

Main Methods:

  • Karyotyping was performed to determine the chromosomal makeup of the infant.
  • Clinical examination was conducted to assess external and internal anatomical features.

Main Results:

  • The infant presented with external male characteristics but possessed rudimentary internal female organs.

Related Experiment Videos

  • Karyotype analysis revealed 47,XX+22, confirming complete trisomy 22.

    • Conclusions:

    • This case expands the known phenotypic spectrum of trisomy 22.
    • It underscores the importance of cytogenetic analysis in cases of atypical sexual development.