Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both
sex chromosomes
Sex chromosomes (also referred to as allosomes, heterotypical chromosome, gonosomes, heterochromosomes, or idiochromosomes) are chromosomes that
carry the genes that determine the sex of an individual. The human sex chromosomes are a typical pair ...
(also called ''gonosomes'').
In humans this may refer to:
*
45, X, also known as Turner syndrome
*
45,X/46,XY mosaicism
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, 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 a ...
, also known as X0/XY mosaicism and mixed gonadal dysgenesis
*
46, XX/XY
*
47, XXX, also known as trisomy X or triple X syndrome
*
47, XXY, also known as Klinefelter syndrome
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47, XYY, also known as Jacobs syndrome
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48, XXXX, also known as tetrasomy X
*
48, XXXY
XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes. People in most cases have two sex chromosomes: an X and a Y or two X chromosomes. The presence of one Y chromosome wi ...
*
48, XXYY
XXYY syndrome is a sex chromosome anomaly in which males have two extra chromosomes, one X and one Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes ...
*
48, XYYY
*
49, XXXXY
*
49, XYYYY
*
49, XXXXX
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, hear ...
, also known as pentasomy X
* 46,
XX gonadal dysgenesis
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. Individuals with XX gonadal dysgenesis have normal-appearing external geni ...
* 46,
XY gonadal dysgenesis
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, the person has underdeveloped gonads, fibrous tissue termed " streak go ...
, also known as Swyer syndrome
* 46,
XX male syndrome
XX male syndrome, also known as de la Chapelle syndrome or 46,XX testicular disorder of sex development (or 46,XX DSD) is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype.updated 2015
In 90 perce ...
, also known as de la Chapelle syndrome
In this list, the
karyotype
A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by de ...
is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the
genotype
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...
is normal but the
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...
is not.)
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