Genetic diagnosis and analysis for two cases of ring chromosome 22 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 494-497, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-247650
ABSTRACT
<p><b>OBJECTIVE</b>To confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.</p><p><b>METHODS</b>Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.</p><p><b>RESULTS</b>For case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.</p><p><b>CONCLUSION</b>With combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cromosomas en Anillo
/
Cromosomas Humanos Par 22
/
Pruebas Genéticas
/
Bandeo Cromosómico
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Polimorfismo de Nucleótido Simple
/
Genética
/
Proteínas del Tejido Nervioso
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Child, preschool
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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