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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, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
This syndrome results from an extra copy of the X chromosome in each of a female's cells. Females with trisomy X have three X chromosomes, for a total of 47 chromosomes per cell. The average IQ of females with this syndrome is 90, while the average IQ of unaffected siblings is 100. [22] Their stature on average is taller than normal females.
Sperm also have only one set of 23 chromosomes and are therefore haploid. When an egg and sperm fuse at fertilization, the two sets of chromosomes come together to form a unique diploid individual with 46 chromosomes. [2] The sex chromosome in a human egg is always an X chromosome since a female only has X sex chromosomes.
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.
In the absence of a Y chromosome, the fetus will undergo female development. This is because of the presence of the sex-determining region of the Y chromosome, also known as the SRY gene. [5] Thus, male mammals typically have an X and a Y chromosome (XY), while female mammals typically have two X chromosomes (XX).
Females therefore have 23 homologous chromosome pairs, while males have 22. The X and Y chromosomes have small regions of homology called pseudoautosomal regions. An X chromosome is always present as the 23rd chromosome in the ovum, while either an X or Y chromosome may be present in an individual sperm. [4]
Typically, the cells of female humans contain two X chromosomes, while the cells of male humans have an X and a Y chromosome. [22] During early fetal development, all embryos have phenotypically female genitalia up until week 6 or 7, when a male embryo's gonads differentiate into testes due to the action of the SRY gene on the Y chromosome. [23]
Hermann Paul August Otto Henking (16 June 1858 – 28 April 1942) [1] was a German cytologist who discovered the X chromosome in 1890 or 1891. The work was the result of a study in Leipzig of the testicles of the firebug (Pyrrhocoris apterus), during which Henking noticed that one chromosome did not take part in meiosis.