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Fluorescence in situ hybridization. Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups. [1][2][3][4]
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.
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3][4]
In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects fewer than 200,000 people in the United States", [ 7 ] or about 1 in 1,500 people. This definition is essentially the same as that of the Orphan Drug Act of 1983, a federal law that was ...
Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tagsor pits, and conotruncalheart defects. [1][2]It can occur in offspring of carriers of the constitutional chromosomal translocation t(11 ...
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. [1] The diseases are not restricted to Finns ...
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip.
Causes. 3p deletion syndrome is brought on by the loss of chromosome 3 's small (p) arm's end. The majority of 3p deletion syndrome instances are not hereditary. One chromosome is deleted, usually randomly, either in the early stages of fetal development or during the production of reproductive cells, such as eggs or sperm.