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
A sex chromosome (also referred to as an allosome, heterotypical chromosome, gonosome, heterochromosome, or idiochromosome) is a chromosome that differs from an ordinary autosome in form, size, and behavior. The human sex chromosomes, a typical ...
(also called ''gonosomes'').
In humans this may refer to:
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45, X, also known as
Turner syndrome
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hair ...
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45,X/46,XY mosaicism
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis,
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46, XX/XY
46,XX/46,XY is a chimeric 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. The cause of the condition lies ''in utero'' with the agg ...
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47, XXX, also known as Triple X syndrome and trisomy X
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47, XXY, also known as
Klinefelter syndrome
Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are su ...
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47, XYY, has normal phenotype
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48, XXXX
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, h ...
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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 ...
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48, XXYY
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49, XXXXY
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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, heart ...
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XX gonadal dysgenesis
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XY gonadal dysgenesis
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XX male syndrome
XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a 46, XX karyotype (otherwise associated with females) has phenotypically male characteristics that can vary among case ...
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