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CMSRU Medical Education Grand Rounds - "Panel on Disorders of Sexual Differentiation"
Video about sexual gentic disorders:
Girl with Turner syndrome before and immediately after her operation for neck-webbing Its incidence is about 1: This makes it one of the most common chromosomal abnormalities. A zinc-finger gene was mapped to 9p by hybridization several years ago; however, since there are estimated to be at least zinc-finger—containing genes in the human genome, it is not surprising that at least 1 of them is on 9p. Children with this type of DSD have female chromosomes. It is considered a variant of Triple X syndrome. However, its expression in all primary steroidogenic tissues, including the developing hypothalamus and pituitary gonadotropes, suggests a role in additional levels of the reproductive axis. Due to the nature of SNP arrays and their limitation in resolution, rearrangements smaller than kb cannot be detected by these arrays. It is the most common cause of intersexuality in females with 46XX, where untreated girls develop an outwardly male appearance. Here are some examples:
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