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

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

Danielle Rudd  1 , Michael Axelsen  2 , Eric A Epping  2 , Nancy Andreasen  2 , Thomas Wassink  2
Affiliations
Case Reports

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

Danielle Rudd et al. Clin Case Rep. 2015 Apr.

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.

Keywords: Childhood-onset schizophrenia; copy number variant; cytogenetic; partial monsomy X; partial trisomy 16.

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Figures

Figure 1
Figure 1
(A) The 2.2 deleted region of Chr3p12.2–p12.1. Top individual is the case subject, and bottom is the father. (B) Deletion does not overlap any genes.
Figure 2
Figure 2
(A) The 16.7 Mb duplicated region on chr16q22.3–q24.3. (B) Duplication overlaps 163 genes.
Figure 3
Figure 3
(A) The 43 Mb deletion of chromosome Xq23–q28. (B) The 43 Mb deletion of chromosome Xq23–q28.
See this image and copyright information in PMC

References

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