{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:46:27Z","timestamp":1787168787620,"version":"build-2736575974"},"reference-count":7,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T00:00:00Z","timestamp":1668988800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay\/intellectual disability (DD\/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis (MCA), performed by DNA microarray technology, is a valuable method used to elucidate the ethology of these clinical expressions, essentially contributing to the diagnosis of rare genetic diseases produced by DNA copy number variations (CNVs). MCA is frequently used as the first-tier cytogenetic diagnostic test for patients with MCM, DD\/ID, or ASD due to its much higher resolution (\u226510\u00d7) for detecting microdeletions and microduplications than classic cytogenetic analysis by G-banded karyotyping. Therefore, MCA can detect about 10% pathogenic genomic imbalances more than G-banded karyotyping alone. In addition, MCA using the Single Nucleotide Polymorphism-array (SNP-array) method also allows highlighting the regions of loss of heterozygosity and uniparental disomy, which are the basis of some genetic syndromes. We presented a case of a five-year-old patient, with global development delay, bilateral fronto-parietal lysencephaly, and pachygyria, for which MCA through SNP-Array led to the detection of the genetic changes, such as 3p26.3p24.3 microduplication and 4q34.3q35.2 microdeletion, which were the basis of the patient\u2019s phenotype and to the precise establishment of the diagnosis.<\/jats:p>","DOI":"10.3390\/diagnostics12112887","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T03:04:20Z","timestamp":1669086260000},"page":"2887","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation"],"prefix":"10.3390","volume":"12","author":[{"given":"Georgeta","family":"Cardos","sequence":"first","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8425-6307","authenticated-orcid":false,"given":"Nicolae","family":"Gica","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corina","family":"Gica","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9213-6735","authenticated-orcid":false,"given":"Anca Maria","family":"Panaitescu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Predescu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheorghe","family":"Peltecu","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"},{"name":"Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florina Mihaela","family":"Nedelea","sequence":"additional","affiliation":[{"name":"Filantropia Clinical Hospital, 011132 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,21]]},"reference":[{"key":"ref_1","first-page":"295359","article-title":"Microduplication of 3p26.3 implicated in cognitive development","volume":"2014","author":"Maikoo","year":"2014","journal-title":"Case Rep. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13039-016-0261-9","article-title":"Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: A case report and a brief literature review","volume":"9","author":"Li","year":"2016","journal-title":"Mol. Cytogenet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e1725","DOI":"10.1002\/mgg3.1725","article-title":"CHL1 deletion is associated with cognitive and language disabilities\u2013Case report and review of literature","volume":"9","author":"Tsuboyama","year":"2021","journal-title":"Mol. Genet. Genomic. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"222","DOI":"10.4103\/0019-5154.96203","article-title":"Terminal 4q deletion syndrome","volume":"57","author":"Kuldeep","year":"2012","journal-title":"Indian J. Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1212\/01.WNL.0000031431.81555.16","article-title":"Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society","volume":"60","author":"Shevell","year":"2003","journal-title":"Neurology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1097\/GIM.0b013e3181f8baad","article-title":"Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities","volume":"12","author":"Manning","year":"2010","journal-title":"Genet. Med."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/11\/2887\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:22:57Z","timestamp":1760145777000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/11\/2887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,21]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["diagnostics12112887"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12112887","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,21]]}}}