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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.
[16] 49,XXXYY was one of the later sex chromosome aneuploidies to be discovered, being preceded by Turner, [17] Klinefelter, [18] and trisomy X [19] in 1959, XXYY syndrome in 1960, [20] and XYY [21] and tetrasomy X [22] in 1961. The 49,XXXYY karyotype was not reported again until 1974, highlighting the rarity of the syndrome. [23]
48, XXYY syndrome; 49, XXXXX syndrome; 49, XXXXY syndrome; 5 alpha reductase 2 deficiency; 5-alpha-Oxoprolinase deficiency, rare (NIH) 5-Nucleotidase syndrome, rare (NIH) 5p minus syndrome; 5q- syndrome; 6 alpha mercaptopurine sensitivity, rare (NIH) 6-pyruvoyltetrahydropterin synthase deficiency; 7-dehydrocholesterol reductase deficiency; 8p23 ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Leaky gut syndrome; Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [ 2 ] These may include being taller than average and an increased risk of learning disabilities .
Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. [3] [2] This syndrome is usually inherited via a new mutation in one of the parents' gametes, as those affected by it are usually infertile. It is ...