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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. There are over 6,000 known genetic disorders in humans.
Family sharing. The implications of genetic test results for other family members are important to consider in patients considering elective genetic testing. Unlike most other medical tests, genetic testing may reveal health information about the patient as well as his or her family members. [51]
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4] Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated ...
[30] [31] Genetic testing is essential to distinguish SCN from other neutropenia disorders. Genetic analysis also provides information on inheritance patterns, as SCN can be inherited in either autosomal dominant, autosomal recessive, or, in very rare cases, X-linked inheritance. [28]
Children's Specialized Hospital (CSH) is a children's rehabilitation hospital in New Brunswick, New Jersey. It has 140 beds. [ 1 ] Founded in 1891, the hospital supports a wide range of research with five core areas of research focus - autism, mobility, cognition, brain injury, and chronic illness.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.
It has been a leader in research and testing. The Training School changed its name several times. According to the website of the Vineland Training School, the original official name was "The New Jersey Home for the Education and Care of Feebleminded Children" (1888). This was changed to "The New Jersey Training School" in 1893.