{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:40:09Z","timestamp":1748133609986,"version":"3.41.0"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>Chromosomal aberrations are an important cause of multiple malformation syndromes. Multiple ligation-dependent probe amplification (MLPA) a molecular cytogenetic technique has been suggested as a screening tool for the detection of chromosomal aberrations in resource-limited settings. MLPA can detect chromosomal microdeletions or duplications at approximately 40 chromosomal regions in a single experiment. Several MLPA kits are available to target the chromosomal regions of interest. In the present study, we aimed to detect the yield and utility of MLPA in a cohort of children with multiple malformations and developmental delay. MLPA was performed using kits P245, P070 and P036. The overall yield of MLPA in our cohort was 8%. The manuscript describes very rare and interesting cases of congenital anomalies, such as severe buphthalmos and biphalangeal fingers with a chromosomal etiology. The study demonstrates the usefulness of MLPA as screening technique for chromosomal aberrations in children with multiple malformation syndromes, especially for developing countries such as India.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000370","type":"journal-article","created":{"date-parts":[[2021,4,17]],"date-time":"2021-04-17T07:50:25Z","timestamp":1618645825000},"page":"125-129","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries"],"prefix":"10.1097","volume":"30","author":[{"given":"Shirisha","family":"Pulipaka","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anit","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prateek","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of 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