What is karyotype 46, XY?
What is karyotype 46, XY?
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell , the pattern normally found in males, have genitalia that is not clearly male or female.
How can the mosaicism that results in some people being 45,X 46, XY arise?
A mosaic 45,X/46,XY karyotype, sometimes referred to as mixed gonadal dysgenesis, probably arises through anaphase lag during mitosis in the zygote, although Y chromosomal abnormalities are sometimes seen, and interchromosomal rearrangements with loss of structural abnormal Y material may be a common mechanism for …
How do you write a Mosaicist karyotype?
A person is said to have a “mosaic karyotype” when he or she has one kind of karyotype in some of his or her cells, and a different karyotype in other cells. An example is when a person is said to have a 45,X/46,XX karyotype; that means he or she has 46,X in some cells, and 46,XX in other cells.
What condition is 46 XY?
Swyer syndrome is sometimes called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” indicates that development (in this condition, development of the gonads) is reduced and not typical. People with Swyer syndrome are usually raised as girls and have a female gender identity.
What is an abnormal karyotype?
If your results were abnormal (not normal,) it means you or your child has more or fewer than 46 chromosomes, or there is something abnormal about the size, shape, or structure of one or more of your chromosomes. Abnormal chromosomes can cause a variety of health problems.
What is XY mosaicism?
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.
What is 45 x 46 XY mosaicism?
45,X/46,XY mosaicism. 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell.
What is 4545 mosaicism?
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.
What is the difference between prenatally and postnatally diagnosed mosaicism 45/46/xy?
Objectives: There exist substantial differences between prenatally and postnatally diagnosed cases of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed cases show a normal male phenotype, whereas the postnatally diagnosed cases show a wide spectrum of phenotypes.
Can longitudinal data be obtained from patients with 45/46 mosaicism?
The objective was to provide longitudinal data of patients with 45,X/46,XY mosaicism. This was a retrospective, longitudinal study conducted from June 1990 to January 2012. The study took place at a tertiary pediatric and andrological referral center.
