3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.

doi:10.1016/j.ejmg.2020.104083

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Article

3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.

European journal of medical genetics - 1 Dec 2020

Coyan Alyxis G, Dyer Lisa M

Abstract excerpt

Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular...

Topics

Abnormalities, Multiple
Child
Chromosome Disorders
Chromosome Duplication
Chromosomes, Human, Pair 3
Developmental Disabilities
Female
Genes, Modifier
Genetic Testing
Humans
Infant, Newborn
Male
Phenotype

Source

Open in PubMed

Identifiers

PMID: 33039685
DOI: 10.1016/j.ejmg.2020.104083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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