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9q31.1q31.3 microdeletion syndrome

MedGen UID:
1665719
•Concept ID:
C4750910
•
Disease or Syndrome
Synonyms: Del(9)(q31.1q31.3); Monosomy 9q31.1q31.3; monosomy 9q31.1q31.3
SNOMED CT: 9q31.1q31.3 microdeletion syndrome (773493002); Monosomy 9q31.1q31.3 (773493002)
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
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018428
Orphanet: ORPHA401923

Definition

A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV9q31.1q31.3 microdeletion syndrome

Recent clinical studies

Diagnosis

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C
Am J Med Genet A 2014 Mar;164A(3):685-90. Epub 2013 Dec 20 doi: 10.1002/ajmg.a.36361. PMID: 24376033

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