A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay,disruptive and obsessive behaviors and minor dysmorphic features期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A maternally inherited 16p13.11‐p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay,disruptive and obsessive behaviors and minor dysmorphic features

Authors:	Ines Quintela Francisco Barros Ramon Lago‐Leston Manuel Castro‐Gago Angel Carracedo Jesus Eiris

Affiliation:	1. Grupo de Medicina Xenomica ‐ Universidad de Santiago de Compostela, Centro Nacional de Genotipado ‐ Instituto Carlos III, Santiago de Compostela, Spain;2. Grupo de Medicina Xenomica ‐ USC, CIBERER, Fundacion Publica Galega de Medicina Xenomica ‐ SERGAS, Santiago de Compostela, Spain;3. Grupo de Medicina Xenomica ‐ USC, Fundacion Publica Galega de Medicina Xenomica ‐ SERGAS, Santiago de Compostela, Spain;4. Departamento de Pediatria, Hospital Clinico Universitario de Santiago de Compostela ‐ Unidad de Neurologia Pediatrica, Santiago de Compostela, Spain;5. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia

Abstract:

Keywords:	16p13.11‐p12.3 duplication 12p12.1 deletion SOX5 intellectual disability global developmental delay disruptive behavior obsessive behavior dysmorphism