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Article

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

European journal of medical genetics - 1 Nov 2015

Caselli Rossella, Ballarati Lucia, Vignoli Aglaia, Peron Angela, Recalcati Maria Paola, Catusi Ilaria, Larizza Lidia, Giardino Daniela

Abstract excerpt

A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430 kb critical region including five genes. Here we report on the first adult...

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Source

Identifiers

PMID: 26297194
DOI: 10.1016/j.ejmg.2015.08.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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