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Klinefelter syndrome ( KS ), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [ 10] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring ...
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 (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome ...
This includes patients with Turner Syndrome (45,X or 45,X0) and Klinefelter Syndrome (47,XXY) even though they do not generally present with atypical genitals. XX, Sex reversal: consist of two groups of patients with male phenotypes, the first with translocated Sex-determining region Y protein (SRY) and the second with no SRY gene.
1 in 85,000 to 100,000. 49,XXXXY syndrome is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. [ 1][ 2][ 3] This syndrome is the result of maternal non-disjunction during both meiosis I and II. [ 4] It was first diagnosed in 1960 and was coined Fraccaro syndrome after the ...
Androgen insensitivity syndrome ( AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [ 1] It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. [ 2]
Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. [ 1] To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. [ 2][ 3][ 4] If left untreated, people will have poorly defined ...
Turner syndrome ( TS ), also known as 45,X, or 45,X0, is a genetic disorder in which a person's 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 ...
In simple terms, Angelman syndrome is a rare genetic disorder that causes developmental delays, speech problems, and a happy, excitable demeanor. "Other common signs and symptoms usually appear in ...