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Abstract

October to December 2020 | Vol. 13 | Issue 4 | 07-15
A Case Series of Double Segment Imbalances: Delineation of Phenotypes and Comparison with Phenotypes of Isolated Copy Number Variations
Anup Rawool, Mayank Nilay, Deepti Saxena, Priyanka Srivastava, Amita Moirangthem, Kausik Mandal, Shu
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
This study undertaken at a tertiary hospital documents the phenotypes of patients with double segment chromosomal imbalances (DSI) and compares the phenotypes with those of the isolated copy number variations (CNV) of the concerned regions. Twenty cases diagnosed as DSI in our department over the last four years using cytogenetic microarray (CMA) and/or multiplex ligation-dependent probe amplification (MLPA), were included in the study. In some cases, phenotype of one CNV may predominate as was observed in four cases of this series. However, the other CNV may modify the phenotype. Five cases had a blend of phenotypes corresponding to deleted/duplicated chromosomal segments while 6 cases had nonspecific features like intellectual disability or developmental delay. In five cases the phenotype could not be delineated in detail as they were prenatally detected. Out of the 16 families, there were 5 families showing recurrence which suggested an inherited chromosomal abnormality. Identification of DSI is important as one of the parents may be a carrier of a balanced chromosomal rearrangement. Cytogenetic microarray is the gold standard technique to identify such submicroscopic chromosomal imbalances; however, MLPA with subtelomeric probes is an alternative option for a developing country like ours due to cost constraints. Both these techniques thus help to identify the families at risk of recurrence of chromosomal abnormalities, aiding in prenatal diagnosis and genetic counseling.
 
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