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Turner syndrome occurs in between one in 2,000 [4] and one in 5,000 females at birth. [5] All regions of the world and cultures are affected about equally. [9] Generally people with Turner syndrome have a shorter life expectancy, mostly due to heart problems and diabetes. [7] American endocrinologist Henry Turner first described the condition ...
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
approximately 1 in 1,000 (female) Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they ...
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...
Frequency. 2 to 4 per 100,000 births in the US [1] Batten disease is a fatal disease of the nervous system that typically begins in childhood. [1] Onset of symptoms is usually between 5 and 10 years of age. [1] Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). [1]
Dwarfism is a condition of people and animals marked by unusually small size or short stature. [1] In humans, it is sometimes defined as an adult height of less than 147 centimetres (4 ft 10 in), regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). [2][3][4] Disproportionate dwarfism is characterized ...
This is especially true for Healthy life expectancy, the definition of which criteria may change over time, even within a country. For example, Canada is a country with a fairly high overall life expectancy at 81.63 years; however, this number decreases to 75.5 years for Indigenous people in the country. [ 4 ]