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 is the male version of Turner syndrome?
Consequently, in the past, Noonan syndrome has been referred to as “male Turner syndrome,” “female pseudo-Turner syndrome,” or “Turner phenotype with normal chromosomes karyotype.” However, there are many important differences between the two disorders.
Can a boy have mosaic Turner syndrome?
In males, they can range from a seemingly normal male to the presence of a variety of features which can include dysmorphic (abnormally formed) features, mild intellectual disabilities , infertility, Ulrich-Turner stigmata (drooping of upper eyelid, extra “webbing” on the neck), gonadal dysgenesis, infertility, low …
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 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.
Can a male have 45 chromosomes?
The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture.
Does everyone have mosaicism?
Mosaic Turner syndrome (TS) is a condition in which cells inside the same person have different chromosome packages. Mosaic TS can affect any cell in the body. Some cells have X chromosomes and some don’t. Every 3 out of every 10 girls with TS will have some form of Mosaic TS.
What is Y chromosome mosaicism?
Specialty. Obstetrics and gynaecology, endocrinology, medical genetics. 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 are the phenotypes of mosaicism 45 x/46 XY?
Methods: The clinical, cytogenetic, endocrinologic, histologic and molecular biological findings of 27 patients with 45, X/46,XY mosaicism are analyzed. Results: The reported cases showed a wide spectrum of phenotypes as Turner syndrome, mixed gonadal dysgenesis (MGD), male pseudohermaphroditism (MPH) and apparently normal male.
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.
What is the phenotypical expression of karyotype 45 x 46?
The phenotypical expression may be ambiguous, male or female depending on the extent of the mosaicism. The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity.
What are the Turner stigmata of mosaicism 45 x 46?
Other Turner stigmata encountered in 45,X/46,XY mosaicism include renal abnormalities, aortic coarctation, cubitus valgus, and low posterior hairline. Mild mental retardation, autism, and facial dysmorphism may also be part of the phenotypic spectrum (Richter-Unruh et al., 2004; Telvi et al., 1999).