20p13 microdeletion syndrome

MedGen UID:: 1655817
•Concept ID:: C4750789
•: Disease or Syndrome

Synonyms:	20p subtelomeric deletion syndrome; Del(20)(p13); Monosomy 20p13; monosomy 20p13
SNOMED CT:	20p13 microdeletion syndrome (773346008); 20p subtelomeric deletion syndrome (773346008); Monosomy 20p13 (773346008)
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:0017780
Orphanet:	ORPHA313781

Definition

A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV20p13 microdeletion syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- 20p13 microdeletion syndrome

Recent clinical studies

Etiology

Prenatal diagnosis of 20p13 microdeletion syndrome.

Yener C, Sayın C, İnan C, Gürkan H, Atlı Eİ, Atlı E, Altan E, Ateş S, Varol F
Taiwan J Obstet Gynecol 2021 Mar;60(2):350-354. doi: 10.1016/j.tjog.2021.01.015. PMID: 33678341

See all (1)

Diagnosis

Prenatal diagnosis of 20p13 microdeletion syndrome.

Yener C, Sayın C, İnan C, Gürkan H, Atlı Eİ, Atlı E, Altan E, Ateş S, Varol F
Taiwan J Obstet Gynecol 2021 Mar;60(2):350-354. doi: 10.1016/j.tjog.2021.01.015. PMID: 33678341

See all (1)

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20p13 microdeletion syndrome

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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