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Article

Private inherited microdeletion/microduplications: implications in clinical practice.

European journal of medical genetics - 1 Jan 2000

Mencarelli Maria Antonietta, Katzaki Eleni, Papa Filomena Tiziana, Sampieri Katia, Caselli Rossella, Uliana Vera, Pollazzon Marzia, Canitano Roberto, Mostardini Rosa, Grosso Salvatore, Longo Ilaria, Ariani Francesca, Meloni Ilaria, Hayek Josef, Balestri Paolo, Mari Francesca, Renieri Alessandra

Abstract excerpt

The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high-resolution technique is also opening novel diagnostic challenges when inherited private CNVs of unclear clinical significance are found. Oligo array-CGH analysis of 84 patients with mild to severe mental retardation associated with multiple congenital anomalies revealed 10 private CNVs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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PMID: 18657637
DOI: 10.1016/j.ejmg.2008.06.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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