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[Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2013

Vorsanova S G, Iurov I Iu, Voinova V Iu, Kurinnaia O S, Zelenova M A, Demidova I A, Ulas E V, Iurov Iu B

Abstract excerpt

Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a...

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Source

Identifiers

PMID: 24300809

Genes

MECP2
CDKL5

Provenance

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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