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

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

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

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

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

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

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

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

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

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

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

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

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

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

Guide to Contributors

List of Members of the Editorial Board

ƒ Rates in Rupees (Rs.) for India

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