Трисомія 17р
ORPHA:261290· ICD-10 Q92.2· Trisomy 17p syndrome
Визначення(English summary)
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
- Поширеність
- Unknown
- Успадкування
- Not applicable, Unknown
- Вік початку
- Infancy, Neonatal