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Human Genetics

CHROMOSOMAL ABNORMALITIES RECORDED FROM INDIA

P.M. GOPINATH AND K. SATYAMOORTHY (Manipal University, Manipal,

Karnataka, India) 2010 • Pages: 214• Size: 180x240 mm •

ISBN 81-85264-54-6•Binding: Hard • PRICE: US $ 60/- Rs. 1950/-

(Special Volume of International Journal of Human Genetics - No. 10)

CHROMOSOMAL ABNORMALITIES RECORDED FROM INDIA

We know from our clinical experience in the practice of medicine that in diagnosis, prognosis, and treatment, the individual and his background of hereadity are just as important, if not more so, as the disease itself” (Paul White). Technological developments in cytogenetics resulted in establishing the number of chromosomes in human beings as 46 in 1956, though the chromosome complement of various organisms was known in the previous century itself. Diagnostic cytogenetics had its birth in 1959 and showed the association of chromosomal defects with various diseases and human cytogenetics is now a rapidly progressing field of interest, in biomedicine.

CONTENTS

Preface

  1. Anupam Kaur and Jai Rup Singh • Chromosomal Abnormalities: Genetic Disease Burden in India

  2. Prochi F. Madon, Arundhati S. Athalye, Kunal Sanghavi and Firuza R. Parikh • Microdeletion Syndromes Detected by FISH – 73 Positive from 374 Cases

  3. Usha Dave and Dhanlaxmi Shetty • Chromosomal Abnormalities in Mental Retardation: Indian Experience

  4. G. K. Chetan, K. R. Manjunatha, H. N. Venkatesh, S. Balu, E. Venkataswamy and S. Roy • Cytogenetic Studies of Idiopathic Mental Retardation: A Report

  5. Parvinder Kumar, Ashma Gupta, Roopali Fotra, Upma, Sunil Raina, Surbhi Sethi, T.R.Raina and Subash Gupta • Chromosomal Anomalies in Referred Cases with Suspected Genetic Disorders: First Report from Jammu and Kashmir

  6. M. Rajasekhar, R. Murugesan, Rekharao, H. Shetty, Jyothirao, P. M. Gopinath and K. Satyamoorthy • Cytogenetic Analysis of 1400 Referral Cases: Manipal Experience

  7. Radhakrishnan Yashwanth, Nallathambi Chandra and P M. Gopinath • Chromosomal Abnormalities among Children with Congenital Malformations

  8. V. Kalavathi, N. Chandra, G. Renjini Nambiar, Jayashree Shanker, P. Sugunashankari, J. Meena, T. Jegatheesan, S. T. Santhiya, A. Ramesh, P. M. Gopinath and K. M. Marimuthu • Chromosomal Abnormalities in 979 Cases of Amenorrhea: A Review

  9. J. Vijayalakshmi, Teena Koshy, Harpreet Kaur, F. Andrea Mary, R. Selvi, V. Deepa Parvathi, R. Bhavani, R. Vikram Jayanth, P. Venkatchalam and Solomon F. D. Paul • Cytogenetic Analysis of Patients with Primary Amenorrhea

  10. J. Gazala, I. V. Amithkumar, J. Sabina, K.K. Praveena and J. Sujatha • Prenatal Diagnosis in Pericentric Inversion 6

  11. A. Venkateshwari, Ashrafunnisa Begum, A. Srilekha M. Sujatha Pratibha Nallari and A. Jyothy • A 21/22 Translocation in a Female with Repeated Abortions: A Case Report

  12. Angel Beula P.R, Sridevi Hegde, Priti Venkatesh and Jayaprakash • Evaluation of Cardiac Defect in a Fetus with 8p Interstitial Deletion

  13. Jai Rup Singh, Arvind Rup Singh and Arsh Rup Singh • Directory of Human Genetic Services in India – 2007

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