USMLE (Fach) / Biochemistry - Genetics (Lektion)

Vorderseite Rett syndrome
Rückseite

- Sporadic disorder seen almost exclusively in girls (affected males die in utero or shortly after birth).

- Most cases are caused by de novo mutation of MECP2 on X chromosome.

Symptoms usually appear between ages 1-4. - Regression (Retturn) in motor, verbal, and cognitive abilities- Ataxia- Seizures- Growth failure- Stereotyped hand-wringing

Diese Karteikarte wurde von estoffel erstellt.