1q21.1 duplikasjon
Også kjent som: 1q21.1 microduplication syndrome
Engelsk navn: 1q21.1 microduplication syndrome
Engelske synonym: Dup(1)(q21.1),Trisomy 1q21.1
Definisjon
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
Fra Orphanet
ORPHA: 250994
Klassifiseringsnivå: Disorder
ICD-10: Q92.3
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
