USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Rett syndrome
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- 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
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