Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

Ferrario, Alessandra; Aliu, Nijas; Rieubland, Claudine; Vuilleumier, Sébastian; Grabe, Hilary M.; Escher, Pascal (2023). Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome. Genes, 14(12) MDPI, Molecular Diversity Preservation International 10.3390/genes14122222

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Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability. The heterozygous 5 Mb-microdeletion was characterized by an array CGH (Comparative Genomic Hybridization) analysis. In the past two decades, nine patients with microdeletions in this region have been identified by array CGH analysis and were reported in the literature. All these patients show psychomotor development disorder and outer and/or inner ear anomalies. In addition, most of the patients have mild to severe intellectual disability and show facial malformations. We reviewed the literature on PubMed and OMIM using the gene/loci names as search terms in an attempt to identify correlations between genes located within the heterozygous microdeletion and the clinical phenotype of the patient, in order to define a recognizable phenotype for the 2p11.2p12 microdeletion syndrome. We discuss additional symptoms that are not systematically present in all patients and contribute to a heterogeneous clinical presentation of this microdeletion syndrome.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Forschungsbereich Augenklinik > Forschungsgruppe Augenheilkunde
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics

UniBE Contributor:

Aliu, Nijas, Rieubland, Claudine, Vuilleumier, Sébastian, Grabe, Hilary Michelle, Escher, Pascal


600 Technology > 610 Medicine & health




MDPI, Molecular Diversity Preservation International




Pubmed Import

Date Deposited:

28 Dec 2023 08:23

Last Modified:

28 Dec 2023 08:33

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

ELMOD3 FOXI3 POLR1A REEP1 chromosome 2 congenital ear anomalies facial malformations microdeletion neurodevelopmental disorder





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