Genetic analysis of a case of 46, XX, SRY- male syndrome / 中华男科学杂志
National Journal of Andrology
;
(12): 431-435, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-689738
ABSTRACT
<p><b>Objective</b>To identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype.</p><p><b>METHODS</b>We analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human CytoSNP-12 Beadchip array.</p><p><b>RESULTS</b>Negative results were found in the examination of the sex-determining region Y (SRY) gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46, XX. SNP array showed a 1.05 Mb 19p12 duplication and a 0.93 Mb Xq27.1 duplication.</p><p><b>CONCLUSIONS</b>The patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Pruebas Genéticas
/
Aberraciones Cromosómicas
/
Bandeo Cromosómico
/
Diagnóstico
/
Proteína de la Región Y Determinante del Sexo
/
Trastornos Testiculares del Desarrollo Sexual 46, XX
/
Cariotipo
/
Genética
/
Infertilidad Masculina
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
/
Masculino
Idioma:
Chino
Revista:
National Journal of Andrology
Año:
2018
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS