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Article

Assessment of copy number variations in 120 patients with Poland syndrome.

BMC medical genetics - 25 Nov 2016

Vaccari Carlotta Maria, Tassano Elisa, Torre Michele, Gimelli Stefania, Divizia Maria Teresa, Romanini Maria Victoria, Bossi Simone, Musante Ilaria, Valle Maura, Senes Filippo, Catena Nunzio, Bedeschi Maria Francesca, Baban Anwar, Calevo Maria Grazia, Acquaviva Massimo, Lerone Margherita, Ravazzolo Roberto, Puliti Aldamaria

Abstract excerpt

BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses...

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Source

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Identifiers

PMID: 27884122
DOI: 10.1186/s12881-016-0351-x
PMCID: PMC5123256

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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