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1 in 20,000 to 1 in 7,500 [4] Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with ...
Frequency. 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]
Shown is the "period life expectancy" at birth. This is the average number of years a newborn would live if age-specific mortality rates in the current year were to stay the same throughout its life. The data is taken from the 2020, 2021/2022 and 2023/2024 United Nations World Population Prospects.
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
Chromosomal Mutation. Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. [1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1] ). [2] It was first described by Jérôme Lejeune in 1963. [3]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Life table. In actuarial science and demography, a life table (also called a mortality table or actuarial table) is a table which shows, for each age, the probability that a person of that age will die before their next birthday ("probability of death "). In other words, it represents the survivorship of people from a certain population. [1]
22q13 deletion syndrome, known as Phelan–McDermid syndrome ( PMS ), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype) typical of a terminal deletion may be diagnosed as 22q13 ...