title: Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.
abstract: MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Fu
authors.affiliation: Ultrasonic Department of Panyu Central Hospital, Guangzhou, Guangdong 511400, China.
authors.forename: Huan-ling
authors.initials: HL
authors.lastname: Liu
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Han
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Pan
authors.initials: P
authors.lastname: Min
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhen
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Yong-ling
authors.initials: YL
authors.lastname: Zhang
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Gui-e
authors.initials: GE
authors.lastname: Xie
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Ting-ying
authors.initials: TY
authors.lastname: Lei
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
authors.forename: Dong-zhi
authors.initials: DZ
authors.lastname: Li
authors.affiliation: Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China. Electronic address: canliao@hotmail.com.
authors.forename: Can
authors.initials: C
authors.lastname: Liao
mesh_terms: D001921:Brain / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: Chromosome microarray analysis; Congenital malformation; Prenatal diagnosis; The MECP2 duplication syndrome