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Article

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

European journal of medical genetics - 1 Jan 2000

Li Feng, Shen Yiping, Köhler Udo, Sharkey Freddie H, Menon Deepa, Coulleaux Laurence, Malan Valérie, Rio Marlène, McMullan Dominic J, Cox H, Fagan Kerry A, Gaunt Lorraine, Metcalfe Kay, Heinrich Uwe, Hislop Gordon, Maye Una, Sutcliffe Maxine, Wu Bai-Lin, Thiel Brian D, Mulchandani Surabhi, Conlin Laura K, Spinner Nancy B, Murphy Kathleen M, Batista Denise A S

Abstract excerpt

The use of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays has dramatically altered the approach to identification of genetic alterations that can explain intellectual disability and /or congenital anomalies. However, the discovery of numerous copy number c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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PMID: 20132918
DOI: 10.1016/j.ejmg.2010.01.004

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STS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20132918-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?PMID 20132918Read ↗

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