一名有精神病行为患者9p24.3q21.11重复的临床及分子特征描述

Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.

作者信息

Martínez-Jacobo Lizeth, Ortíz-López Rocío, Rizo-Méndez Alfredo, García-Molina Viridiana, Santuario-Facio Sandra K, Rivas Fernando, Rojas-Martínez Augusto

机构信息

Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico.

Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Mexico; Unidad de Genómica, Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Mexico.

出版信息

Gene. 2015 Apr 10;560(1):124-7. doi: 10.1016/j.gene.2015.02.010. Epub 2015 Feb 7.

DOI:10.1016/j.gene.2015.02.010

PMID:25667990

Abstract

This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69Mbp duplicated segment in this patient includes the critical 9p duplication syndrome region, the GLDC and C90RF72 genes associated with psychotic behavior and other conduct disorders, and a potential locus for autism.

摘要

本文描述了一名19岁女性，有轻度面部畸形、社交障碍、学业成绩下降及精神病行为，其核型显示有一个额外染色体标记，经阵列比较基因组杂交鉴定为9p24.3-9q21.11重复。该患者中69Mbp的重复片段包括关键的9p重复综合征区域、与精神病行为及其他行为障碍相关的GLDC和C90RF72基因，以及一个潜在的自闭症位点。