46,XX/46,XY - Wikipedia
46,XX/46,XY is either a chimeric or mosaic genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being.
46,XX testicular difference of sex development - MedlinePlus
46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia.
XX male syndrome - Wikipedia
XX male syndrome, also known as de la Chapelle syndrome, is a rare 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]
Karyotype 46,XX - an overview | ScienceDirect Topics
Both testicular and ovarian elements may be found in the same gonad, or one testis and one ovary may be found in the same individual. In most cases, the karyotype is 46,XX; 46,XX/46,XY chimerism and 46,XY karyotypes can also be found.
46,XX testicular disorder of sex development | About the ...
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous.
Rare disease: Is 46XX karyotype always a female? - PMC
2012年7月18日 — The 46XX testicular disorder of sex development is characterised by the presence of a 46XX karyotype, male external genitalia ranging from normal to ambiguous, two testicles, azoospermia and absence of Müllerian structures.
46,XX disorder of sex development-anorectal anomalies ...
46,XX disorder of sex development-anorectal anomalies syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.
Turner syndrome - Wikipedia
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [2][6][7] Most people have two sex chromosomes...
Nonsyndromic 46,XX Testicular Disorders/Differences of Sex ...
2003年10月30日 — Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the ...
46,XX ovotesticular disorder of sex development | About the ...
A rare disorder of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.