Preferred Label : 8q duplication;
ICD-11 definition : Trisomy 8q is a very rare chromosomal anomaly characterized by duplication of the
long arm of chromosome 8. The most commonly associated abnormalities include low birth
weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism,
upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital
heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary
in relation to the duplication size.;
ICD-11 synonym : Chromosome 8 long arm trisomy; 8q duplication syndrome;
Origin ID : 573390171;
UMLS CUI : C0795829;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Trisomy 8q is a very rare chromosomal anomaly characterized by duplication of the
long arm of chromosome 8. The most commonly associated abnormalities include low birth
weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism,
upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital
heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary
in relation to the duplication size.
