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1.
Chinese Journal of Medical Genetics ; (6): 443-446, 2013.
Artigo em Chinês | WPRIM | ID: wpr-237230

RESUMO

<p><b>OBJECTIVE</b>To analyze genomic copy number variations in an infant with Cri du Chat syndrome, and to explore the underlying genetic cause.</p><p><b>METHODS</b>G-banding analysis was carried out on cultured peripheral blood sample from the patient. Copy number variation analysis was performed using microarray comparative genomic hybridization, and the result was verified with fluorescence in situ hybridization.</p><p><b>RESULTS</b>The infant was found to have a 46, XY, der(5) (p?) karyotype. By microarray comparative genomic hybridization, a 23.263 Mb deletion was detected in 5p14.2-p15.3 region in addition to a 14.602 Mb duplication in 12p31 region. A derivative chromosome was formed by rejoining of 12p31 region with the 5p14.2 breakpoint. The patient therefore has a karyotype of arr cgh 5p15.3p14.2 (PLEKHG4B>CDH12)× 1 pat, 12p13.33p13.1 (IQSEC3>GUC Y2C)× 3 pat. Loss of distal 5p and gain of distal 12p were verified with fluorescence in situ hybridization.</p><p><b>CONCLUSION</b>The Cri du Chat syndrome manifested by the patient was caused by deletion of distal 5p from an unbalanced translocation involving chromosome 5. Microarray comparative genomic hybridization is a powerful tool for revealing genomic copy number variations for its high-resolution, high-throughput and high accuracy.</p>


Assuntos
Adulto , Feminino , Humanos , Lactente , Masculino , Bandeamento Cromossômico , Deleção Cromossômica , Hibridização Genômica Comparativa , Síndrome de Cri-du-Chat , Genética , Variações do Número de Cópias de DNA
2.
Chinese Journal of Medical Genetics ; (6): 176-179, 2011.
Artigo em Chinês | WPRIM | ID: wpr-326969

RESUMO

<p><b>OBJECTIVE</b>To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).</p><p><b>CONCLUSION</b>A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.</p>


Assuntos
Adulto , Humanos , Masculino , Síndrome de Resistência a Andrógenos , Genética , Sequência de Bases , Dados de Sequência Molecular , Mutação , Reação em Cadeia da Polimerase , Métodos , Receptores Androgênicos , Genética , Análise de Sequência de DNA , Métodos
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