一名具有混合表型女童中通过单核苷酸多态性阵列（SNP arrays）和荧光原位杂交（FISH）鉴定的18号染色体长臂的新发重复/缺失 - Suppr

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

作者信息

Córdova-Fletes Carlos, Sáinz-González Enrique, Avendaño-Gálvez Roberto Iván, Ramírez-Velazco Azubel, Rivera Horacio, Ortiz-López Rocío, Arámbula-Meraz Eliakym, Picos-Cárdenas Verónica Judith

机构信息

Laboratorio de Citogenomica y Microarreglos, Departamento de Bioquimica y Medicina Molecular, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 64460, Mexico.

出版信息

J Genet. 2014 Dec;93(3):869-73. doi: 10.1007/s12041-014-0459-8.

DOI:10.1007/s12041-014-0459-8

PMID:25572250

Abstract

摘要

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De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

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