SNP array and cytogenetic analysis of a patient with unexplained mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 332-334, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247679
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype.</p><p><b>METHODS</b>Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high resolution analysis of the patient's genome.</p><p><b>RESULTS</b>TP-PCR has shown no abnormal amplification of CGG in the 5'UTR of FMR1 gene. Hence, Fragile X syndrome was excluded as the cause for mental retardation. SNP array analysis has identified a 0.93 Mb duplication at 7q36.1-q36.2 and a 2.2 Mb deletion at 12p13.1-p13.2 in the patient.</p><p><b>CONCLUSION</b>The microduplication and microdeletion discovered in the patient probably underlies the intelligence disability. The high-resolution SNP array can provide accurate information for the identification of pathogenesis, and is the preferred method for the diagnosis of unexplained mental retardation.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise de Sequência com Séries de Oligonucleotídeos
/
Análise Citogenética
/
Polimorfismo de Nucleotídeo Único
/
Proteína do X Frágil da Deficiência Intelectual
/
Genética
/
Deficiência Intelectual
Tipo de estudo:
Estudo prognóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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