<p>Functional Genomics Study of Sick Neonate Affected with Chromosomal Rearrangements and Correlated with Clinical Phenotype: A 2 Year Survey of ICU in a Tertiary Care Hospital in Kolkata</p>

Authors: Puspal D , Sudipa C , Amit C , Tushar KS and Santanu B

Volume 1, Issue 1

Abstract

In order to assess major chromosomal abnormalities among sick neonate with dysmorphic feature, mental retardation and delayed milestones in Kolkata, a chromosome aberration survey initiated in collaboration with Dr B.C. Roy Post Graduate Institute for Pediatric Science (Kolkata) is in progress. Since two years, we have screened about 120 sick neonates and children with indicated cases as per clinical findings. Cytogenetic analysis of blood lymphocytes were studied with High Resolution GTG-banding analysis by using Chromosome profiling (Cyto-vision software 3.6) on their chromosomes. The result shows significant amount of numerical and structural chromosomal abnormality. Among 120 selected sick neonates with dysmorphic fatures and pediatric cases, 22 cases have different chromosomal abnormalities. Among them 14 cases have numerical and 8 cases have structural chromosomal abnormality. The present genetic screening result shows presence of syndromes caused by numerical chromosomal abnormality like Down Syndromes [1] Edwards syndrome, Patau syndrome, Turner syndrome [2] Sex Chromosomes [3] Others [1] and structural chromosome rearrangements [4]. Among structural chromosomal abnormality small deletion in 8p, 22q, 20p, 3p and derivative 9, robertsonian translocation are found. Among the structural chromosomal rearrangement, two cases have shown typical clinical Phenotype (Beta-Thalassaemia associated with microcephaly, congenital Cataract and rare cases of micro deletion 1p 36), reported for the first time from India. We also found presence of mosaic cell line within same individual and severe hypodiploidy. We have correlated functional gene loci with clinical phenotypes of all 8 cases with chromosomal structural losses (bioinformatics approach) which will be a new approach for clinicians to evaluate and necessary management. This report provides valuable addition to the growing literature in Birth Defects Database.

Keywords: <p>Chromosomal abnormality; Sick Neonate; Newborn and Children; Dysmorphic features; Genotype; Phenotype; functional genomics</p>

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