U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

3q27.3 microdeletion syndrome

MedGen UID:
1651953
Concept ID:
C4749427
Disease or Syndrome
Synonym: Del(3)(q27.3)
SNOMED CT: 3q27.3 microdeletion syndrome (770719004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018341
Orphanet: ORPHA397695

Definition

A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV3q27.3 microdeletion syndrome

Recent clinical studies

Diagnosis

Jewell R, Eng B, Coates A, Hewitt S, Hobson E
Clin Dysmorphol 2017 Jul;26(3):154-156. doi: 10.1097/MCD.0000000000000177. PMID: 28288024
Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L
J Med Genet 2014 Jan;51(1):21-7. Epub 2013 Oct 16 doi: 10.1136/jmedgenet-2013-101939. PMID: 24133203

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...