International Journal of Technology Enhancements and Emerging Engineering Research (ISSN 2347-4289)

IJTEEE >> Volume 3 - Issue 5, May 2015 Edition

International Journal of Technology Enhancements and Emerging Engineering Research  
International Journal of Technology Enhancements and Emerging Engineering Research

Website: http://www.ijteee.org

ISSN 2347-4289

Detection Of Chromosomal Instability And Subtelomeric Rearrangements In Sick Neonate And Children With Multiple Congenital Malformations

[Full Text]



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.



[1] Le. Caiqnec. C and et al, Detection of Genomic Imbalances by Arry based comparative genomic hybridization in fetuses with multiple malformations. J. Med Genet. Feb 2005; 42(2):121-8

[2] Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H: Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet 2011, 19:231–234

[3] Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, et al: Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 2012, 20:521–526.

[4] O’Connor, Chromosomal Abnormalities: Aneuploids, Nature Edition 2008; 1(1): 172

[5] Verna, R.S. and Babu, A. Human Chromosomes: Manual of Basic Techniques, 1989; pp. 71-72. Pergamon Press, New York.

[6] Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971; 2: 971–972. doi: 10.1016/S0140-6736(71)90287-X.

[7] Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGorge and velo-cardio-facial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 1993; 30:813-817.

[8] Old JM; Methods in Molecular Biology; Protocols in Human Molecular Genetics; Detection of Mutations by the Amplification Refractory Mutation System (ARMS); 1991; Vol 9, p 77-84.

[9] Wyandt, H. E.; Tonk, V. S. Atlas of Human Chromosome Heteromorphisms. Netherlands: Kluwer Academic. 2004; ISBN 978-90-481-6296-3.

[10] Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL: Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006 Jun;43(6):478-89. Epub 2005 Sep 30.

[11] Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999, 354:1676-1681.

[12] De P, Chatterjee T, Chakravarty S, Chakravarty A: Clinical presentation of two beta thalassemic Indian patients with 1p36 deletion syndrome- a case report. Journal of Pediatric Genetics 2014, 3: 175-181.

[13] Lisa G. Shaffer*,Justine Coppinger, Sarah Alliman, Beth A. Torchia, Aaron Theisen, Blake C. Ballif and Bassem A. Bejjani: Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens Prenatal Diagnosis, Volume-28, Issue-9, Pages- 789-795, September- 2008

[14] Elizabeth Baker, Lyn Hinton, David F. Callen, Meryl Altree, Angus Dobbie, Helen J. Eyre, Grant R. Sutherland, Elizabeth Thompson, Peter Thompson, Erica Woollatt and Eric Haan : Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies, American Journal of Medical Genetics, Volume 107, Issue 4, pages 285–293, 1 February 2002