ATI RN · Obstetrics and Pediatrics · Genetic Disorders in Pediatrics

46 XX male syndrome is a rare condition, described by De la Chapelle et al. in 1964 where the individual has phenotypically male characteristics. It occurs in one out of every 20,000-25,000 newborn males. This condition could be related to:

Matching: Vulvovaginitis - Nits on hair shaft

A unaffected couple who are first cousins request counseling regarding their risk of having a child with alpha-1-antitrypsin deficiency, a rare autosomal recessive trait. Their parents are unaffected. Their shared grandfather is affected with the disorder and their shared grandmother is heterozygous. What is the risk to their child of being HOMOZYGOUS FOR A VARIANT FOR THE CONDITION? (disregard the population carrier frequency)

Suppose there's an X-linked recessive disease, if the mother has the disease, while the father doesn't, what's the chance that they'll have an affected female?

A mutation leading to: