This preprint is under consideration at Italian Journal of Pediatrics. A preprint is 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.
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Diana Miclea
Universitatea de Medicina si Farmacie Iuliu Hatieganu
Corresponding Author
ORCiD: https://orcid.org/0000-0001-8777-0689
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array.
Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique.
Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy).
Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.
Keywords
global developmental delay, intellectual disability, SNP array, copy number variants, aetiology
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CURRENT STATUS: Under Review
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Posted 08 Apr, 2021
No community comments so far
Reviews received
Received 30 Apr, 2021
Reviewer #1 agreed
On 30 Apr, 2021
Review #1 received
Received 30 Apr, 2021
Reviewers invited
Invitations sent on 09 Apr, 2021
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On 06 Apr, 2021
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On 06 Apr, 2021
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This preprint is under consideration at Italian Journal of Pediatrics. A preprint is 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
Research
Diana Miclea
Universitatea de Medicina si Farmacie Iuliu Hatieganu
Corresponding Author
ORCiD: https://orcid.org/0000-0001-8777-0689
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: Under Review
Version 1
Posted 08 Apr, 2021
No community comments so far
Reviews received
Received 30 Apr, 2021
Reviewer #1 agreed
On 30 Apr, 2021
Review #1 received
Received 30 Apr, 2021
Reviewers invited
Invitations sent on 09 Apr, 2021
Editor assigned
On 06 Apr, 2021
Submission checks complete
On 06 Apr, 2021
Editor invited
On 06 Apr, 2021
First submitted
On 29 Mar, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array.
Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique.
Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy).
Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.
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