Original ArticlesRare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countriesPulipaka, Shirisha; Kaur, Anit; Bhatia, Prateek; Panigrahi, Inusha; Kaur, AnupriyaAuthor Information Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India Received 20 April 2020 Accepted 17 February 2021 Correspondence to Anupriya Kaur, MD, DM, Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Room no. 4110, Chandigarh, India, Tel: +7087003382; e-mail: [email protected] Clinical Dysmorphology: July 2021 - Volume 30 - Issue 3 - p 125-129 doi: 10.1097/MCD.0000000000000370 Buy Metrics Abstract 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. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.