4p16.3 mikroduplikasjon

Også kjent som: 4p16.3 microduplication syndrome
Engelsk navn: 4p16.3 microduplication syndrome
Engelske synonym: Distal duplication 4p,Distal trisomy 4p,Telomeric duplication 4p,Trisomy 4pter


Definisjon

4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.

Fra Orphanet

ORPHA: 96072
Klassifiseringsnivå: Disorder
ICD-10: Q92.3

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