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Case Report
Yunrong Qin
Corresponding Author
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Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs.
Case presentation: An 11-month-old infant with an sSMC fond by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability.
Conclusion: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.
Keywords
15q duplication syndrome, small supernumerary marker chromosomes, copy number variation sequencing, developmental delay
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View the published article at Molecular Cytogenetics.
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Received 10 May, 2020
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On 04 May, 2020
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Reviewer #1 agreed
On 04 May, 2020
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On 03 May, 2020
Editor invited
On 03 May, 2020
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Editorial decision: Major Revision
On 08 Mar, 2020
Review #2 received
Received 02 Mar, 2020
Reviewers invited
Invitations sent on 17 Feb, 2020
Reviewer #1 agreed
On 17 Feb, 2020
Reviewer #2 agreed
On 17 Feb, 2020
Review #1 received
Received 17 Feb, 2020
Editor assigned
On 13 Feb, 2020
First submitted
On 12 Feb, 2020
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Subject Areas
Molecular Genetics
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A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
See the published version of this preprint at Molecular Cytogenetics.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Case Report
Yunrong Qin
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at Molecular Cytogenetics.
Version 2
Posted 15 May, 2020
No community comments so far
Review #1 received
Received 10 May, 2020
Editorial decision: Minor Revision
On 10 May, 2020
Editor assigned
On 04 May, 2020
Reviewers invited
Invitations sent on 04 May, 2020
Reviewer #1 agreed
On 04 May, 2020
Submission checks complete
On 03 May, 2020
Editor invited
On 03 May, 2020
No comments provided
Editorial decision: Major Revision
On 08 Mar, 2020
Review #2 received
Received 02 Mar, 2020
Reviewers invited
Invitations sent on 17 Feb, 2020
Reviewer #1 agreed
On 17 Feb, 2020
Reviewer #2 agreed
On 17 Feb, 2020
Review #1 received
Received 17 Feb, 2020
Editor assigned
On 13 Feb, 2020
First submitted
On 12 Feb, 2020
Submission checks complete
On 12 Feb, 2020
Editor invited
On 12 Feb, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Molecular Genetics
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Molecular Cytogenetics.
Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs.
Case presentation: An 11-month-old infant with an sSMC fond by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability.
Conclusion: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.
Figure 1
Figure 2
Figure 3
Figure 4
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