Prenatal diagnosis of SCA is increasing because of the widespread use of these technologies. Such patients have non-specific features e. Information about genetic testing. About Us. Tissues of affected individuals are unresponsive to male hormones androgens yet respond to estrogens.
Clinical indications that should raise suspicions of a sex chromosome abnormality are: delay in onset of puberty; primary or secondary amenorrhea; infertility; ambiguous genitalia.
Input from a Clinical Geneticist may be required. The issue of sexual classification, however, is complicated by factors such as chromosomal complement, external genitalia, gender identification and surgical alteration. Since most affected individuals can not make a woman pregnant, assisted reproduction specialists are available for help IVF using sperm from the donor.
How much does CMA cost? Prenatal testing can also be performed. Hidden category: Inserted articles.
One third of affected individuals show gynaecomastia abnormal development of mammary glands in male resulting in breast enlargement. These include mutations or structural anomalies of the SRY region on the Y chromosome resulting in XY gonadal dysgenesis, XX males, or XY females; defects of androgen biosynthesis or androgen receptors, and others.
Indeed, most cases of SCA are compatible with normal life expectancy and often go undiagnosed. There is no severe phenotype associated with three X chromosomes in women. Counselling is an essential element of genetic testing. Clearly, there are many other potential legal implications of such definitions and the complicated issues they raise are many.
What does CMA test for? Mammals normally have more than one X chromosome, but the genes from only one is expressed. Personal tools Talk Contributions Log in. Mosaicism may be detected.