7p22.1 mikroduplikasjon
Også kjent som: 7p22.1 microduplication syndrome
Engelsk navn: 7p22.1 microduplication syndrome
Engelske synonym: Dup(7)(p22.1),Trisomy 7p22.1
Definisjon
7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.
Fra Orphanet
ORPHA: 314034
Klassifiseringsnivå: Disorder
ICD-10: Q92.3
