Lupski, J. R. et al. DNA duplication associated with charcot-marie-tooth disease type 1a. Cell 66, 219–232 (1991).

Article  CAS  PubMed  Google Scholar 

Chance, P. F. et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143–151 (1993).

Article  CAS  PubMed  Google Scholar 

Nevado, J. et al. New microdeletion and microduplication syndromes: a comprehensive review. Genet Mol. Biol. 37, 210–219 (2014).

Article  PubMed  Google Scholar 

Lee, J. A. & Lupski, J. R. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52, 103–121 (2006).

Article  CAS  PubMed  Google Scholar 

Goldenberg, P. An update on common chromosome microdeletion and microduplication syndromes. Pediatr. Ann. 47, e198–e203 (2018).

Article  PubMed  Google Scholar 

Martin, C. L., Kirkpatrick, B. E. & Ledbetter, D. H. Copy number variants, aneuploidies, and human disease. Clin. Perinatol. 42, 227–242 (2015).

Article  PubMed  PubMed Central  Google Scholar 

de Vries, B. B. et al. Diagnostic genome profiling in mental retardation. Am. J. Hum. Genet. 77, 606–616 (2005).

Article  PubMed  PubMed Central  Google Scholar 

Tang, M. et al. Duplication of 10q22.3-Q23.3 encompassing Bmpr1a and Ngr3 associated with congenital heart disease, microcephaly, and mild intellectual disability. Am. J. Med. Genet. A 167a, 3174–3179 (2015).

Article  PubMed  Google Scholar 

Browne, P. C. et al. Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype. J. Neonatal Perinat. Med. 9, 217–222 (2016).

Article  CAS  Google Scholar 

Hu, H. et al. Prenatal diagnosis and genetic analysis of 21q21.1-Q21.2 aberrations in seven Chinese pedigrees. Front Genet. 12, 731815 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Riggs, E. R. et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (Clingen). Genet. Med. 22, 245–257 (2020).

Article  PubMed  Google Scholar 

Wijedasa, D. Developmental screening in context: adaptation and standardization of the Denver Developmental Screening Test-II (DDST-II) for Sri Lankan children. Child Care Health Dev. 38, 889–899 (2012).

Article  CAS  PubMed  Google Scholar 

Shaffer, L. G. & Bejjani, B. A. A cytogeneticist’s perspective on genomic microarrays. Hum. Reprod. Update 10, 221–226 (2004).

Article  CAS  PubMed  Google Scholar 

Callaway, J. L., Shaffer, L. G., Chitty, L. S., Rosenfeld, J. A. & Crolla, J. A. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat. Diagn. 33, 1119–1123 (2013).

Article  PubMed  PubMed Central  Google Scholar 

Wapner, R. J. et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367, 2175–2184 (2012).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Levy, B. & Wapner, R. Prenatal diagnosis by chromosomal microarray analysis. Fertil. Steril. 109, 201–212 (2018).

Article  PubMed  PubMed Central  Google Scholar 

Barber, J. C. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J. Med. Genet. 42, 609–629 (2005).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bisgaard, A. M. et al. Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants? Eur. J. Med. Genet. 50, 243–255 (2007).

Article  PubMed  Google Scholar 

Collins, R. L. et al. A cross-disorder dosage sensitivity map of the human genome. Cell 185, 3041–3055.e3025 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capalbo, A., Rienzi, L. & Ubaldi, F. M. Diagnosis and clinical management of duplications and deletions. Fertil. Steril. 107, 12–18 (2017).

Article  CAS  PubMed  Google Scholar 

Girirajan, S. et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med. 367, 1321–1331 (2012).

Article  CAS  PubMed  PubMed Central  Google Scholar