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Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, 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.
X-linked recessive traits are more common in males as they only have one X chromosome, they need only one mutated X chromosome to be affected. In contrast, females have two X chromosomes and must inherit two mutated recessive X alleles, one from each parent, to be affected. X-linked recessive phenotypes tend to skip generations. [7]
X-SCID is caused by a mutation occurring in the xq13.1 locus of the X-chromosome. [7] Most often, this disease affects males whose mother is a carrier (heterozygous) for the disorder. Because females have two X-chromosomes, the mother will not be affected by carrying only one abnormal X-chromosome, but any male children will have a 50% chance ...
This means that males affected by an X-linked recessive disorder inherited the responsible X chromosome from their mothers. Second, X-linked recessive traits are more commonly expressed in males than females. [2] This is due to the fact that males possess only a single X chromosome, and therefore require only one mutated X in order to be affected.
Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the ...
Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell.
Thus, the syndrome is an X-linked condition, and it affects males and females differently. The 23rd pair of chromosomes is typically termed the "sex chromosomes". Females have two X chromosomes and males have one X and one Y chromosome. Therefore, in normal individuals, males carry a single copy of the STS gene and
The disorder is inherited in an X-linked recessive fashion (as the gene linked to it is on the X chromosome) and is almost entirely limited to the sons of asymptomatic female carriers. [3] This is because males have only one copy of the X chromosome, while females have two copies; one normal copy of an X chromosome can compensate for mutations ...