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Volume 2 | Issue 1 | January to March 2009

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January to March 2009 | Vol 2 | Issue 1 | Pages 2
Diagnosis of Index Case: Why and How?
The second issue of 'Genetic clinics' was in your hands well in time and was appreciated by many reader friends and colleagues. I hope it continues to be regularly published with contents useful and interesting to you all. This will not be possible without the support of you all. I request everybody to send articles, case reports etc., for publication in the newsletter...

Shubha R Phadke
January to March 2009 | Vol 2 | Issue 1 | Pages 3-5
Counseling for exposure to antiepileptic drugs in Pregnancy
An agent that can cause a birth defect by interfering with the normal embryonic or fetal development is known as teratogen. If a drug taken by a mother during pregnancy interferes with the development of the embryo or fetus, it is known as a teratogenic drug. Perhaps the best example of a teratogen is evident from the thalidomide tragedy in 1960's when the drug...

Sumita Danda
January to March 2009 | Vol 2 | Issue 1 | Pages 6-10
Approach to a Child with Mental Retardation
Mental retardation or global developmental delay is an etiologically heterogeneous entity. Having an etiological explanation aids in the development of a specific treatment plan, prognosis and recurrence risk. This paper describes the diagnostic evaluation of the child with developmental delays or mental retardation to assist clinicians in the management of these children....

Neerja Gupta, Madhulika Kabra
Clinical Vignettes
January to March 2009 | Vol 2 | Issue 1 | Pages 11-12
Hemoglobin D (Iran) masquerading as Hemoglobin E
We report on a family with thalassemia in which, sequencing beta globin gene helped in elucidation of a confusing phenotype. This case illustrates the utility and importance of complete molecular analysis in prenatal diagnosis and genetic counseling of patients with genetic diseases....

Angalena R, Ajay Chaudhary, Murali D Bashyam, Ashwin Dalal
January to March 2009 | Vol 2 | Issue 1 | Pages 13
Population screening for Fragile X: are we going overboard?
Newborn screening has ushered a revolution in early detection and management of genetic diseases like phenylketonuria, congenital hypothyroidism, and various other inherited metabolic disorders. Recently, a pilot study to detect Fragile X syndrome in newborn males was performed by PCR based methods. The detection rate (1:730) was higher than the...

Parag M Tamhankar