11p15.4 microduplication syndrome

MedGen UID:: 1660019
•Concept ID:: C4749508
•: Disease or Syndrome

Synonyms:	Dup(11)p(15.4); dup(11)p(15.4); Trisomy 11p15.4; trisomy 11p15.4
SNOMED CT:	Trisomy 11p15.4 (770794008); 11p15.4 microduplication syndrome (770794008)
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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0017580
Orphanet:	ORPHA300305

Definition

A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGV11p15.4 microduplication syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- 11p15.4 microduplication syndrome

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11p15.4 microduplication syndrome

Definition

Term Hierarchy

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