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Turner syndrome (TS), commonly known as 45,X, or 45,XO, [note 1] is a chromosomal 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 ...
This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in approximately one in 500 live male births. [4] [13] [36] In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males, as well as ...
In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, [27] 45,X [28] and 47,XXX [29] in 1959. Even the much less common 48,XXYY [30] had been discovered in 1960, a year before 47,XYY.
The presentation of XYYY syndrome is variable and at this time not entirely clear. As all known cases were diagnosed postnatally (after birth), and the similar XYY syndrome is known to have a milder phenotype in prenatally than postnatally diagnosed cases, it is suspected that many cases of XYYY syndrome may be mild or asymptomatic.
P – Point mutation, or any insertion/deletion entirely inside one gene; D – Deletion of a gene or genes; Dup - Duplication of a gene or genes; C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex 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] [5] [6]
Scientists have long known that aging varies widely among individuals, influenced by genetics and lifestyle choices. Now, a new tool called CheekAge offers a simple, noninvasive way to predict ...
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 ...