Determining the Role of Prenatal Diagnosis in Parents with Sex Chromosomal Aneuploidy: Review Article | Chapter 07 | New Horizons in Medicine and Medical Research Vol. 6
The karyotypes 45,X (Turner syndrome); 47,XXY (Klinefelter syndrome); 47,XXX; and 47,XYYY are all examples of sex chromosome aneuploidy, which is defined as a numeric aberration of an X or Y chromosome. Individuals with the numbers 47,XXX and 47,XXY are typically viable, however they may have a cytogenetically abnormal child. Turner and Klinefelter syndromes are frequently linked to infertility, however some women have been able to give birth to healthy children, and other kids have been born with chromosomal abnormalities. 0.1 percent of live-born female babies have Triple X syndrome. Only a few cases of congenital abnormalities have the 47,XXX karyotype, hence the majority of these newborn kids have a normal phenotype. Despite the fact that these female patients appear to be mainly viable, there appears to be an increased risk of having a cytogenetically abnormal kid; the magnitude of this risk cannot yet be determined; prenatal diagnosis and genetic study are therefore indica...