Patau syndrome Guide, Meaning , Facts, Information and Description
Patau syndrome, also known as Trisomy 13, is a chromosomal aberration, a disease in which a patient has an additional chromosome 13.Symptons include:
- low birth weight
- heart defects
- structural eye defects - Micropthalmia (abnormal smallness of one or both eyes)
- cleft palate or hare lip
- meningomyelocele (a spinal defect)
- omphalocele (abdominal defect)
- abnormal genitalia
- low set ears
- abnormal palm pattern
- scalp defects
- extra digitss - polydactyly
- Microcephaly ("small head")
- overlapping of fingers over thumb.
Patients with the so-called mosaic form of Patau syndrome have only some of their cells carrying the additional copy of chromosome 13. The severity of the disease depends on the ratio of affected to unaffected cells.