Lack of proximal part of long arm of X causes gonadal dysgenesis, but not somatic abnormalities. But how does this fit in with X inactivation? Not all genes on X are inactivated. Very tall, some are mentally retarded, but wide variation in phenotype, androgen levels.
Sex Determination in Mammal |authorSTREAM
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Mammalian Sex Determination
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Our knowledge of mammalian sex determination is based on two main areas of study. First, the characterization of the biological events that determine the sexual development of the individual, including patterns of gene expression, and second, the study of genetic mutations in humans and mice that lead to abnormal sexual phenotypes. In the search for molecular components of this process, the identification of genes in loci involved in human disease has been especially fruitful. Serendipity has also played a hand, where in several cases targeted mutations in mouse genes, being studied for other reasons, have led to unexpected sex reversal phenotypes.