Distal 7q11.23 microdeletion syndrome

MedGen UID:: 462349
•Concept ID:: C3150999
•: Disease or Syndrome

Synonyms:	Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb; DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME
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. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0013393
OMIM®:	613729
Orphanet:	ORPHA254351

Definition

Hemizygous 1.2-Mb deletion of the distal region of chromosome 7q11.23 is associated with increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities (Ramocki et al., 2010). [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDistal 7q11.23 microdeletion syndrome

Partial deletion of the long arm of chromosome 7
- Distal 7q11.23 microdeletion syndrome

Follow this link to review classifications for Distal 7q11.23 microdeletion syndrome in Orphanet.

Recent clinical studies

Etiology

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B
Am J Med Genet A 2021 Jan;185(1):242-249. Epub 2020 Oct 24 doi: 10.1002/ajmg.a.61937. PMID: 33098373

See all (1)

Diagnosis

Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.

Kuo HT, Chen CH, Lin CY, Chang YS, Chang JG
Cytogenet Genome Res 2019;159(4):182-189. Epub 2020 Jan 14 doi: 10.1159/000505282. PMID: 31931504

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Distal 7q11.23 microdeletion syndrome

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity