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XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
Chromosomal sex is determined at the time of fertilization; a chromosome from the sperm cell, either X or Y, fuses with the X chromosome in the egg cell. Gonadal sex refers to the gonads, that is the testicles or ovaries, depending on which genes are expressed. Phenotypic sex refers to the structures of the external and internal genitalia. [6]
46,XX/46,XY is an example of tetragametic chimerism because it requires four gametes – two sperm and two ova. 46,XX/46,XY is most commonly explained during in conception combination of two fertilized eggs zygotes. Two ova from the mother are fertilized by two sperm from the father. One sperm contains an X chromosome; the other contains a Y ...
Mixed gonadal dysgenesis, also known as X0/XY mosaicism or partial gonadal dysgenesis, [21] is a sex development difference associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. [14] Mixed gonadal dysgenesis is the presence of two or more germ line cells. [23]
Offspring have two sex chromosomes: an offspring with two X chromosomes (XX) will develop female characteristics, and an offspring with an X and a Y chromosome (XY) will develop male characteristics, except in various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome ...
The Y chromosome is one of two sex chromosomes in therian mammals and other organisms.Along with the X chromosome, it is part of the XY sex-determination system, in which the Y is the sex-determining chromosome because the presence of the Y chromosome causes offspring produced in sexual reproduction to be of male sex.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]