Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 831-834, 2017.
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>
Full text:
1
Index:
WPRIM
Main subject:
Beckwith-Wiedemann Syndrome
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Chromosomes, Human, Pair 11
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Genomic Imprinting
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DNA Methylation
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Multiplex Polymerase Chain Reaction
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Genetics
Limits:
Female
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Humans
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Infant
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Male
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Newborn
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article