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Article

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.

American journal of medical genetics. Part A - 1 Jul 2015

Ronzoni Luisa, Peron Angela, Bianchi Vera, Baccarin Marco, Guerneri Silvana, Silipigni Rosamaria, Lalatta Faustina, Bedeschi Maria Francesca

Abstract excerpt

The 2q3 duplication and 4q3 deletion are two distinct conditions with variable phenotypes including developmental delay, intellectual disability, Pierre Robin sequence (PRS), and cardiovascular, craniofacial, digital and skeletal anomalies. We describe two cousins, a 37-year-old man (Patient 1) and a 17-year-old girl (Patient 2), with a derivative chromosome leading to a 4q35 deletion-2q35q37 duplication....

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Identifiers

PMID: 25851921
DOI: 10.1002/ajmg.a.37063

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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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