Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Clin Dysmorphol. 2021 Jul 1;30(3):125-129. doi: 10.1097/MCD.0000000000000370.
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.
染色体异常是多种多发畸形综合征的一个重要病因。多重连接依赖性探针扩增（MLPA）是一种分子细胞遗传学技术，已被提议作为一种在资源有限的环境中检测染色体异常的筛查工具。MLPA 可在单次实验中检测大约 40 个染色体区域的染色体微缺失或重复。有几种 MLPA 试剂盒可用于针对感兴趣的染色体区域。在本研究中，我们旨在检测 MLPA 在一组多发性畸形和发育迟缓的儿童中的检出率和应用价值。MLPA 使用试剂盒 P245、P070 和 P036 进行。我们组 MLPA 的总体检出率为 8%。本文描述了非常罕见和有趣的先天性异常病例，如严重的先天性青光眼和双指骨，其具有染色体病因。该研究表明 MLPA 作为一种筛查技术，可用于检测多发性畸形综合征儿童的染色体异常，特别是对印度等发展中国家。
