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Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a phenotypic male at birth 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 ...
De la Chapelle syndrome [ 1 ] Human karyotype 46 XX. Specialty. Medical genetics. 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 ...
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 ...
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes ...
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 ...
The XY sex-determination systemis a sex-determination systempresent in many mammals, including humans, some insects (Drosophila), some snakes, some fish (guppies), and some plants (Ginkgotree). In this system, the sexof an individual usually is determined by a pair of sex chromosomes. Typically, females have two of the same kind of sex ...
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 (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome. 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis.
The result is a genetic condition in which a person has 47 chromosomes instead of the usual 46. During egg or sperm development the 21st chromosome does not separate during either the egg or sperm development. The result is a cell that has 24 chromosomes. This extra chromosome may cause problems with the manner in which the body and brain ...