Cytogenetic and molecular genetic diagnosis of a neonate with partial 13q trisomy and partial 5p monosomy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 747-749, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-291690
ABSTRACT
<p><b>OBJECTIVE</b>To diagnose a neonate presenting with multiple dysmorphic features, Cri-du-chat signs and hypoglycemia and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>The patient was diagnosed with conventional cytogenetics and real-time fluorescence quantitative PCR (QF-PCR). The phenotype was then correlated with the genotype through a review of literature.</p><p><b>RESULTS</b>The neonate was diagnosed with a partial 13q trisomy (q12 → qter) and partial 5p monosomy (p15 →pter).</p><p><b>CONCLUSION</b>A rare diagnosis has been established with combined cytogenetic and molecular genetic techniques. QF-PCR has a broad application in genetic diagnosis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 5
/
Cromossomos Humanos Par 13
/
Síndrome de Cri-du-Chat
/
Citogenética
/
Diagnóstico
/
Genética
/
Doenças do Recém-Nascido
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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