Chromosome 16p11.2 deletion syndrome, 593-kb

Preferred Label : Chromosome 16p11.2 deletion syndrome, 593-kb;

CISMeF acronym : AUTS14A;

Type : Phenotype, molecular basis known;

Included titles and symbols : Autism, susceptibility to, 14a; AUTS14A;

Description : Recurrent microdeletions and microduplications of approximately 555 kb at chromosome 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients (summary by Fernandez et al., 2010). The 16p11.2 deletion frequently cosegregates with severe early-onset obesity (Bochukova et al., 2010; Walters et al., 2010). For a discussion of the clinical features and cytogenetics of the reciprocal 16p11.2 duplication, see 614671. There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 136570 for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. Battaglia et al. (2009) emphasized that the region at 16p11.2 that confers susceptibility to autism is located more centromeric to and is distinct from 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disabilities phenotype (613604).;

Prefixed ID : #611913;

Details

Origin ID

611913;

UMLS CUI

C3150154;

Currated CISMeF NLP mapping
- 16p11.2 deletion [ICD-11 More detail]
- 16p11.2 deletion syndrome [MeSH Supplementary Concept]
- 16p11.2 deletion syndrome [MeSH concept]
- Chromosome 16p11.2 Deletion Syndrome [NCIt concept]
- Chromosome 16p11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]
- Proximal 16p11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Broad forehead [HPO term]
- Contiguous gene syndrome [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autism [ORDO Disease]
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients