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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.
Summary
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.
- 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.