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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

Abstract Background X-linked methyl-CpG-binding protein 2 (MECP2) duplication syndrome is prevalent in approximately 1% of X-linked intellectual disabilities. Accumulating evidence has suggested that MECP2 is the causative gene of MECP2 duplication syndrome. We report a case of a 17-year-old boy wit...

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Principais autores: Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto, Ken Inoue
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2023-03-01
סדרה:BMC Medical Genomics
נושאים:
Gene dysfunction
MECP2 duplication syndrome
Progressive neurological disorder
X-linked intellectual disabilities
Xq28 duplication
Chromosomal microarray
גישה מקוונת:https://doi.org/10.1186/s12920-023-01465-3
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