Koolen De Vries Syndrom. What is Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome A microarray [array CGH] test result may look something like this: 46,XX.arr 17q21.31(43,568,123-44,236,497)x1 [hg19] 46 The number of chromosomes in each cell XX The two sex chromosomes: XX for females, XY for males Arr The genetic test was by array CGH. Frequent features in individuals with this condition include feeding problems in infancy, muscle weakness (hypotonia) in young children, developmental problems, language/speech delay, learning disabilities and mild to moderate intellectual disability, epilepsy.
Koolen de Vries Syndrom Deutschland Mikrodeletion 17q21.31.31 Über uns from www.koolen-de-vries-deutschland.de
Koolen-de Vries syndrome (KdVS) is characterized by congenital malformations, developmental delay / intellectual disability, neonatal/childhood hypotonia, epilepsy, dysmorphisms, and behavioral features Koolen-de Vries Syndrome Foundation maintains a confidential database of KdVS families from around the world
Koolen de Vries Syndrom Deutschland Mikrodeletion 17q21.31.31 Über uns
Psychomotor developmental delay is noted in all individuals from an early age A history of epilepsy is noted in ~30-50% of all cases and other. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability.
Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome Diseasemaps. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features.. Koolen-de Vries syndrome (KdVS) is a rare genetic disorder with an estimated prevalence of about 1 in 30,000 people
EMILY JEAN and KOOLEN DE VRIES SYNDROME [formerly 17q21.31 microdeletion syndrome] Nystagmus....... Oral hypotonia and apraxia in infancy and preschool, associated with severely delayed speech development is one of the hall marks of KdVS The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability.