Trisomi 14q
Også kjent som: Distal trisomy 14q
Engelsk navn: Distal duplication 14q
Engelske synonym: Telomeric duplication 14q,Trisomy 14qter
Definisjon
Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.
Fra Orphanet
ORPHA: 1705
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)
