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Symptoms of this disease include a history of developmental regression, mental retardation, and characteristic hand movement in affected females.
A. Huntington disease
B. Rett syndrome
C. Duhenne muscular dystrophy
D. Sickle cell disease
E. Fragile X syndrome
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BBBBBBBBBBBBBBB
Xlinked dominant , xpressed only in females
D/D childhood disintegrative disorder
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B.
Rhett syndrome is generally lethal in males, and is characterized by mental retardation and characteristic hand movements in affected females, among other findings.
Mental retardation is associated with Fragile X syndrome, but inheritance is autosomal recessive and mostly males are affected.
Mental retardation is not associated with Huntington disease, duchenne muscular dystrophy, or sickle cell disease.
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Isnt Fragile X syndrome an X linked dominant ds which can also present in females
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Yes, it is X-linked dominant. Because males normally have only one copy of the X chromosome, those males with significant trinucleotide expansion at the FMR1 locus are symptomatic. They are intellectually disabled and may show various physical features of the fragile X syndrome.
Females have two X chromosomes and thus have an increased probability of having a working FMR1 allele. Females carrying one X chromosome with an expanded FMR1 gene can have some signs and symptoms of the disorder or be normal.