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一名儿童期起病的精神分裂症病例，其3号染色体p12.2 - p12.1区域存在2.2 Mb的缺失，16号染色体q22.3 - q24.3和X染色体q23 - q28存在两个大的染色体异常。

Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2-p12.1 and two large chromosomal abnormalities at 16q22.3-q24.3 and Xq23-q28.

作者信息

Rudd Danielle, Axelsen Michael, Epping Eric A, Andreasen Nancy, Wassink Thomas

机构信息

Interdisciplinary Graduate Program in Genetics, University of Iowa Iowa City, Iowa ; Department of Psychiatry, University of Iowa Iowa City, Iowa.

Department of Psychiatry, University of Iowa Iowa City, Iowa.

出版信息

Clin Case Rep. 2015 Apr;3(4):201-7. doi: 10.1002/ccr3.192. Epub 2015 Feb 2.

DOI:10.1002/ccr3.192
PMID:25914809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4405302/
Abstract

Childhood-onset schizophrenia is rare, comprising 1% of known schizophrenia cases. Here, we report a patient with childhood-onset schizophrenia who has three large chromosomal abnormalities: an inherited 2.2 Mb deletion of chromosome 3p12.2-p12.1, a de novo 16.7 Mb duplication of 16q22.3-24.3, and a de novo 43 Mb deletion of Xq23-q28.

摘要

儿童期起病的精神分裂症较为罕见，占已知精神分裂症病例的1%。在此，我们报告一名患有儿童期起病精神分裂症的患者，其存在三种较大的染色体异常：一种遗传性的3号染色体p12.2 - p12.1区域2.2 Mb的缺失、一种新发的16号染色体q22.3 - 24.3区域16.7 Mb的重复以及一种新发的X染色体q23 - q28区域43 Mb的缺失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/60517b14751f/ccr30003-0201-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/0286d006a7e3/ccr30003-0201-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/dcacf9e975fc/ccr30003-0201-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/60517b14751f/ccr30003-0201-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/0286d006a7e3/ccr30003-0201-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/dcacf9e975fc/ccr30003-0201-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6e5/4405302/60517b14751f/ccr30003-0201-f3.jpg

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