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Article

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

American journal of medical genetics. Part A - 1 Jul 2008

Pramparo Tiziano, de Gregori Manuela, Gimelli Stefania, Ciccone Roberto, Frondizi Domenico, Liehr Thomas, Pellacani Simona, Masi Gabriele, Brovedani Paola, Zuffardi Orsetta, Guerrini Renzo

Abstract excerpt

We identified a duplication of 22q13.1-q13.2 in a 10-year-old girl and demonstrated that this duplication was the recombinant product of a maternal intrachromosomal insertion. Phenotypic characteristics included prominent forehead, small low-set ears, hypertelorism, epicanthal folds, small palpebral fissures, short philtrum, and syndactyly. MRI of the brain revealed high signal abnormalities in the...

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Identifiers

PMID: 18546282
DOI: 10.1002/ajmg.a.32326

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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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