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Что (кто) такое 3q29 microdeletion syndrome - определение
3q29 microdeletion syndrome
HUMAN DISEASE
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.
Koolen–De Vries syndrome
HUMAN DISEASE
17q21.3 Recurrent Microdeletion Syndrome; 17q21.3 recurrent microdeletion syndrome; 17Q21.31 Microdeletion Syndrome; Koolen De Vries syndrome; Koolen deVries Syndrome; Koolen deVries syndrome; Koolen de Vries syndrome; Koolen-De Vries syndrome; Koolen-de Vries syndrome; 17q21.31 microdeletion syndrome; Koolen–de Vries syndrome
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.
Burnside–Butler syndrome
HUMAN DISEASE
15q11.2 BP1-BP2 microdeletion; Burnside-Butler syndrome
Burnside–Butler syndrome is a name that has been applied to the effects of microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2). Varying developmental and psychiatric disorders have been attributed to the microdeletion; however, the great majority of people with the deletion do not have any clinical features associated with it.
