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Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-344166
Responsible library: WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for two children with omphalocele.</p><p><b>METHODS</b>The patients were examined, and the medical history of their families was collected. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to detect potential mutation in the patients.</p><p><b>RESULTS</b>Loss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children.</p><p><b>CONCLUSION</b>The two patients were diagnosed with Beckwith-Wiedemann syndrome by MS-MLPA. The loss of methylation of IC2 probably underlies the disease in both patients.</p>
Subject(s)
Full text: 1 Index: WPRIM Main subject: Beckwith-Wiedemann Syndrome / Chromosomes, Human, Pair 11 / Genomic Imprinting / DNA Methylation / Multiplex Polymerase Chain Reaction / Genetics Limits: Female / Humans / Infant / Male / Newborn Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article
Full text: 1 Index: WPRIM Main subject: Beckwith-Wiedemann Syndrome / Chromosomes, Human, Pair 11 / Genomic Imprinting / DNA Methylation / Multiplex Polymerase Chain Reaction / Genetics Limits: Female / Humans / Infant / Male / Newborn Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2017 Type: Article