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16q24.3 microdeletion syndrome

MedGen UID:
930263
•Concept ID:
C4304594
•
Disease or Syndrome
Synonyms: chromosome 16q24.3 microdeletion syndrome; Del(16)(q24.3); Monosomy 16q24.3; monosomy 16q24.3
SNOMED CT: 16q24.3 microdeletion syndrome (719580004); Monosomy 16q24.3 (719580004)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016838
Orphanet: ORPHA261250

Definition

A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ankyrin Repeat Domain 11) and ZNF778 (Zinc Finger 778). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • 16q24.3 microdeletion syndrome

Recent clinical studies

Etiology

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.
Mash Y, Bardin R, Gilboa Y, Geron Y, Romano A, Hadar E, Goldstein DB, Davidov B, Houri O
Prenat Diagn 2024 Dec;44(13):1585-1592. Epub 2024 Oct 3 doi: 10.1002/pd.6678. PMID: 39363392Free PMC Article

Diagnosis

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.
Mash Y, Bardin R, Gilboa Y, Geron Y, Romano A, Hadar E, Goldstein DB, Davidov B, Houri O
Prenat Diagn 2024 Dec;44(13):1585-1592. Epub 2024 Oct 3 doi: 10.1002/pd.6678. PMID: 39363392Free PMC Article
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
Khalifa M, Stein J, Grau L, Nelson V, Meck J, Aradhya S, Duby J
Am J Med Genet A 2013 Apr;161A(4):835-40. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35739. PMID: 23494856
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.
Miyatake S, Murakami A, Okamoto N, Sakamoto M, Miyake N, Saitsu H, Matsumoto N
Am J Med Genet A 2013 May;161A(5):1073-7. Epub 2013 Mar 5 doi: 10.1002/ajmg.a.35661. PMID: 23463723

Clinical prediction guides

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T
Eur J Hum Genet 2010 Apr;18(4):429-35. Epub 2009 Nov 18 doi: 10.1038/ejhg.2009.192. PMID: 19920853Free PMC Article

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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