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Likely pathogenic CNVs found in the cohort.

Journal: Scientific Reports

Article Title: A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD

doi: 10.1038/s41598-024-54385-2

Figure Lengend Snippet: Likely pathogenic CNVs found in the cohort.

Article Snippet: We collected a total of 1120 chromosomal microarray (CMA) read files that were performed by the Laboratório Neurogene in Florianópolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmão Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de São Thiago and from private clinics in Florianópolis, State of Santa Catarina, between 2013 and 2019.

Techniques: Microarray

Cases with potential UPDs, where a single autosomal chromosome presented LCSH(s) over 3 Mbp, that that alone or in addition of LCSHs ≥ 3 Mbp reached a size of ≥ 10 Mbp with no other LSCH over 5 Mbp on any other autosomal chromosome.

Journal: Scientific Reports

Article Title: A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD

doi: 10.1038/s41598-024-54385-2

Figure Lengend Snippet: Cases with potential UPDs, where a single autosomal chromosome presented LCSH(s) over 3 Mbp, that that alone or in addition of LCSHs ≥ 3 Mbp reached a size of ≥ 10 Mbp with no other LSCH over 5 Mbp on any other autosomal chromosome.

Article Snippet: We collected a total of 1120 chromosomal microarray (CMA) read files that were performed by the Laboratório Neurogene in Florianópolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmão Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de São Thiago and from private clinics in Florianópolis, State of Santa Catarina, between 2013 and 2019.

Techniques: Reflux, Microarray