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[17p trisomy]
La Semaine Des Hopitaux : Organe Fonde Par L'Association D'Enseignement Medical Des Hopitaux De Paris
|July 7, 1983
Summary
Trisomy 17p, a genetic condition caused by translocation, presents a distinct pattern of developmental abnormalities in infants. This includes microcephaly, facial differences, and severe intellectual disability.
Area of Science:
- Genetics
- Human Development
- Medical Science
Background:
- Trisomy 17p is a rare chromosomal abnormality.
- Parental translocations can lead to partial trisomies in offspring.
- Understanding these conditions is crucial for genetic counseling and diagnosis.
Observation:
- A 22-month-old boy presented with trisomy 17p due to a t(10;17)(q26.3;p11) translocation.
- Literature review identified five additional cases of trisomy 17p.
Findings:
- A common pattern of malformations was observed, including microcephaly, frontal bossing, mandibular hypoplasia, persistent mouth opening, high-arched palate, webbed neck, hypotonia, growth retardation, and severe intellectual disability.
- Distinctive features included permanent myosis from iris anomaly, low blood folate levels, and unique hand malformations (flexed fingers, extended little finger).
Implications:
- This case and literature review contribute to defining the clinical spectrum of trisomy 17p.
- Highlights the importance of detailed phenotypic analysis in chromosomal abnormalities.
- May inform future diagnostic approaches and genetic counseling for families with translocation risks.