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Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.

Indian journal of pediatrics - 1 Mar 2020

Correa Alec Reginald Errol, Mishra Puneeta, Kabra Madhulika, Gupta Neerja

Abstract excerpt

OBJECTIVES: To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic manifestations. METHODS: All the cases were evaluated using Methylation Specific Multiplex Ligation Dependent Probe Amplification (MS-MLPA) of 11p15.5 region to detect the abnormal methylation status of ICR1 (H19DR) and ICR2 (KvDMR) regions....

Topics

Beckwith-Wiedemann Syndrome
Chromosomes, Human, Pair 11
DNA Methylation
Epigenesis, Genetic
Female
Genomic Imprinting
Genotype
Humans
India
Infant
Macroglossia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Phenotype

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Identifiers

PMID: 31997239
DOI: 10.1007/s12098-019-03148-3

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