Wednesday, March 16, 2016

Autosomal Trisomies

Autosomal trisomies represent a group of disorders characterized by congenital defects.
Most genetic defects are lethal in some degree.

In Down's syndrome, patient's experience intellectual disability and flat facies. Their hands possess a single palmar crease.

In Edward's snydrome, the patients experience rocker bottom feet



Clenched hands


prominent occiput

Most common trisomy resulting in live birth after Down syndrome.

Patau syndrome can cause

Cleft lip.


Holoprosencephaly


Polydactyly






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