Detection Of Chromosomal Instability And Subtelomeric Rearrangements In Sick Neonate And Children With Multiple Congenital Malformations
Puspal De, Sudipa Chakravarty, Amit Chakravarty, Tushar. Kanti. Saha
KEYWORDS: Chromosomal abnormality, Sick Neonate, Mental Retardation, Dysmorphic features
ABSTRACT: Purpose-In order to assess major chromosomal abnormalities among sick neonate with dysmorphic feature and delayed milestones in Kolkata, a chromosome aberration survey was initiated in collaboration with Dr. B. C. Roy Post Graduate Institute for Pediatric Science ( Kolkata) is in progress. Methods- In last two years, we have screened about 120 sick neonates (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. Results- The result shows that among 120 patients 22 cases have chromosomal abnormality ( 2% cases ) and 36% ( 8 cases out of 22 ) have chromosomal structural variation in sick neonate with gross dysmorphic features with MR which is correlated with International Data. Conclusions- Present data shows 1% (total 22 cases) was affected with chromosomal anomalies represent about 1800 sick neonate screening in West Bengal Population in last two years. This report provides valuable addition to the growing literature in Birth Defects Database in India.
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