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Article

A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Nov 2017

Salemi Michele, Barone Concetta, Salluzzo Maria Grazia, Giambirtone Mariaconcetta, Scillato Francesco, Galati Rando Rosanna, Romano Carmelo, Morale Maria Concetta, Ridolfo Federico, Romano Corrado

Abstract excerpt

OBJECTIVE: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 (TP53) gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with Down Syndrome (DS) within a case-control study. METHODS:...

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Identifiers

PMID: 27852141
DOI: 10.1080/14767058.2016.1262343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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