What is mosaic 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 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 XY DSD?

Summary. Listen. 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.

What is an XO chromosome?

Males only have one X chromosome (X0), while females have two (XX). The zero (sometimes, the letter O) signifies the lack of a second X. Maternal gametes always contain an X chromosome, so the sex of the animals’ offspring depends on whether a sex chromosome is present in the male gamete.

Can you have 49 chromosomes?

Boys and men with 49,XXXXY syndrome have the usual single Y chromosome, but they have four copies of the X chromosome, for a total of 49 chromosomes in each cell. Boys and men with 49,XXXXY syndrome have extra copies of multiple genes on the X chromosome.

What is XO XY mosaicism?

Which syndrome is characterized by a karyotype with 45 chromosomes?

Turner’s syndrome, a form of gonadal dysgenesis resulting from a 45,X karyotype (X‐chromosomal monosomy), is characterized by female phenotype, short stature, a shieldlike chest, a short and sometimes webbed neck, low‐set ears, high‐arched palate, small mandible, and sexual infantilism.