Трисомія 13

Визначення(English summary)

A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.