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.
Artigo
em Chinês
| WPRIM
| ID: wpr-344166
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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Beckwith-Wiedemann
/
Cromossomos Humanos Par 11
/
Impressão Genômica
/
Metilação de DNA
/
Reação em Cadeia da Polimerase Multiplex
/
Genética
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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