5. Just over 99.9% of the observed cases of Rett Syndrome occur in biological women with the sex chromosome arrangement of XX. That means 0.1% of cases occur in biological males, even though we discussed that Rett Syndrome normally leads to in utero death/miscarriage in that population. The 0.1% of cases of Rett Syndrome that occur in men lead to similar symptoms seen in women and at similar ages, so it's not a case where the child is born and dies very early on; they have bona fide Rett Syndrome. Describe a biological mechanism and/or explanation for how men can have Rett Syndrome?
Added by Carl W.
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Step 1: Rett Syndrome is caused by a mutation in the MECP2 gene, which is located on the X chromosome. Show more…
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5. Rett syndrome is an X-linked dominant trait. a. What are all the possible genotypes for a female with Rett syndrome? b. What are all the possible genotypes for a male with Rett syndrome? c. What are all the possible genotypes for an individual (female or male) WITHOUT Rett syndrome? d. What is the probability of having the following offspring from a cross involving a heterozygous female with Rett syndrome and a male without Rett syndrome? i. A female child with Rett syndrome___________________ ii. A female child WITHOUT Rett syndrome ________________ iii. A male child with Rett syndrome___________________ 6. Why are males affected more frequently than females by X-linked genetic disorders?
Adi S.
Rett syndrome is an example of a sex (X) linked genetic disorder, where Rett syndrome (r) is recessively inherited, and lethal in males. Rett syndrome is identified as a neurodevelopmental disorder, often resulting in autism. An additional gene known as FMR1 (F) is also a contributor for autism, and is an example of an autosomal recessive allele. A normal male who is a carrier for FMR1 marries a carrier female for both Rett Syndrome and FMR1. A. What is the probability of their sons having autism through the FMR1 gene? (note: this is in relation to LIVING SONS) B. What is the probability of their children having autism by Rett syndrome and FMR1? (note: this is in relation to living sons)
Jenny W.
Rett syndrome is a severe $X$ -linked recessive disorder that affects mostly female children. How does X inactivation explain this observation?
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