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Chromosome 16p11.2 deletion syndrome

MedGen UID:
777190
•Concept ID:
C3697355
•
Disease or Syndrome
Synonym: 16p11.2 Deletion Syndrome
SNOMED CT: Chromosome 16p11.2 deletion syndrome (699307007); 16p11.2 deletion syndrome (699307007)

Definition

A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 16p11.2 deletion syndrome

Professional guidelines

PubMed

Health supervision for children and adolescents with 16p11.2 deletion syndrome.
Chung WK, Herrera FF; Simon's Searchlight Foundation
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006316. PMID: 38050025Free PMC Article
In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages.
Yang M, Lewis F, Foley G, Crawley JN
Physiol Behav 2015 Jul 1;146:16-27. doi: 10.1016/j.physbeh.2015.04.023. PMID: 26066718

Recent clinical studies

Etiology

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

Diagnosis

Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome.
Jiménez-Romero MS, Fernández-Urquiza M, Benítez-Burraco A
J Speech Lang Hear Res 2022 Dec 12;65(12):4724-4740. Epub 2022 Nov 21 doi: 10.1044/2022_JSLHR-22-00160. PMID: 36410413
Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.
Gatti M, Tolva G, Bergamaschi S, Giavoli C, Esposito S, Marchisio P, Milani D
J Pediatr Adolesc Gynecol 2018 Oct;31(5):533-535. Epub 2018 May 3 doi: 10.1016/j.jpag.2018.04.003. PMID: 29730431
Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

Clinical prediction guides

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
Hanson E, Nasir RH, Fong A, Lian A, Hundley R, Shen Y, Wu BL, Holm IA, Miller DT; 16p11.2 Study Group Clinicians
J Dev Behav Pediatr 2010 Oct;31(8):649-57. doi: 10.1097/DBP.0b013e3181ea50ed. PMID: 20613623

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