一名患有神经发育障碍男孩的新型20q13.11q13.12新生微缺失——病例报告
A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.
作者信息
Bernaciak Joanna, Wiśniowiecka-Kowalnik Barbara, Castañeda Jennifer, Kutkowska-Kaźmierczak Anna, Nowakowska Beata
机构信息
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
出版信息
Dev Period Med. 2017;21(2):91-94. doi: 10.34763/devperiodmed.20172102.9194.
Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.
拷贝数变异（CNV）是人类神经发育障碍的一个重要原因。我们报告了首例患有注意力缺陷障碍、抽动症和自闭症行为（如情绪和行为问题以及动作刻板行为）的患者发生424 kb新发20q13.11q13.12微缺失的病例。该区域包含三个在大脑中表达的基因：SFRS6、PTPRT和L3MBTL。我们的结果表明，染色体区域20q13.11q13.12的缺失是导致该患者所观察到的临床症状的原因。
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