Rare chromosomal aberrations detected in children with multiple congenital anomalies: utility of multiple ligation dependant probe amplification for developing countries. Issue 3 (July 2021)

• Record Type: Journal Article
• Authors: Pulipaka, Shirisha; Kaur, Anit; Bhatia, Prateek; Panigrahi, Inusha; Kaur, Anupriya
• Is Part Of: Clinical dysmorphology. Volume 30:Issue 3(2021)
• Publication Date: 2021-07
• Subjects: congenital anomalies -- microdeletion syndromes -- multiplex ligation-dependent probe amplification -- multiple malformation syndromes; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000370
• Languages: English
• ISSNs: 0962-8827

Abstract

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.