Which Genetic disease caused by nondisjunction of Chromosomes?
Turner syndrome or Ullrich--Turner syndrome (also known as “Gonadal dysgenesis“ 550), 45,X, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent or has other abnormalities (unaffected humans have 46 chromosomes, of which two are sex chromosomes). In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or “Turner mosaicism“.
Occurring in 1 in 2000 — 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities which affect many but not all people with Turner syndrome, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns may also be present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.
Turner syndrome is named after Henry Turner, the endocrinologist who first described it in 1938.
Klinefelter syndrome or Klinefelter’s syndrome is the set of symptoms resulting from additional X genetic material in males. Also known as 47,XXY or XXY, Klinefelter syndrome is a genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype, for a total of 47 chromosomes rather than the 46 found in genetically typical humans. While females have an XX chromosomal makeup, and males an XY, individuals with Klinefelter syndrome have at least two X chromosomes and at least one Y chromosome. Because of the extra chromosome, individuals with the condition are usually referred to as “XXY males“, or “47,XXY males“.
This chromosome constitution (karyotype) exists in roughly between 1:500 to 1:1000 live male births but many of these people may not show symptoms. If the physical traits associated with the syndrome become apparent, they normally appear after the onset of puberty.
In humans, 47,XXY is the most common sex chromosome aneuploidy in males and the second most common condition caused by the presence of extra chromosomes. Other mammals also have the XXY syndrome, including mice.
Principal effects include hypogonadism and sterility. A variety of other physical and behavioural differences and problems are common, though severity varies and many XXY boys have few detectable symptoms.
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