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Volume 7 | Issue 3 | July to September 2014

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July-September 2014 | Vol 7 | Issue 3 | Page No 1-2
A Million Dollar Question
US $ 375,000 per year, US $ 365,000 per year, US $ 200,000 per year- these are costs of medicines per year per patient for some genetic diseases. And these treatments need to be continued lifelong. Many of us cannot even imagine these costs. It is like a mirage -the treatment is available but out of reach of many. Till date most treatments were affordable at least for rich patients, but these newer costly therapies seem to be beyond the

Shubha R Phadke
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Clinical Vignette

July-September 2014 | Vol 7 | Issue 3 | Page No 3-6
Compound heterozygosity for p.F508del mutation and deletion of exons 4-11 in CFTR in an infant with cystic fibrosis-Limitations of ARMS-PCR and Sanger sequencing
Cystic fibrosis (CF) is a life threatening genetic condition caused due to mutations in the CFTR gene. This is an autosomal recessive condition and usually parents are carriers of a heterozygous mutation in the CFTR gene. We describe an infant diagnosed with the severe phenotype of CF and detected to be homozygous for p.F508del by ARMSPCR. However, parental studies confirmed carrier

Sumita Danda 1*, Sabitha Omprakash1, Bhairavi Srinageshwar1, Sneha Varki2
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July-September 2014 | Vol 7 | Issue 3 | Page No 7-10
Distal Arthrogryposis
Congenital multiple joint contractures involving two or more body areas are collectively termed as arthrogryposis. Based on the extent of joint involvement (proximal and/or distal joints), neurological involvement, and involvement of other parts of the body/other organs the etiology and prognosis of arthrogryposis differs.[1] Various etiologies of arthrogryposis include single gene mutations

Siddram J Patil
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July-September 2014 | Vol 7 | Issue 3 | Page No 11-16
Approach to a Child with Dysmorphism/ Congenital Malformation
Dysmorphology is a discipline of clinical genetics which deals with the study of abnormal patterns of human growth and with the recognition and study of congenital human structural anomalies and patterns of birth defects. Congenital malformations/ birth defects can be sub-classified as major or minor anomalies.

Prajnya Ranganath
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July-September 2014 | Vol 7 | Issue 3 | Page No 17-18
Non-invasive prenatal testing for low risk women and more . . .
Though non-invasive prenatal testing using massively parallel sequencing of cell free fetal DNA has been in use in clinical practice since 2011, most of the study cohort and the subsequent data relates to high risk pregnancies. The high accuracy of these techniques for aneuploidy detection has been already proved in these cases. A study by Bianchi et al in a large cohort of women with uncomplicated singleton pregnancies has finally

Anju Shukla
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July-September 2014 | Vol 7 | Issue 3 | Page No 19
This 13 years old girl was referred for evaluation of multiple skin hemangioma, bluish swellings over the hands and wrist and leg deformity. Radiographs showed cystic lesions in the bones with subcutaneous calcification.

Dr. Meenal Agarwal
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1. Thirteenth ICMR Course on Medical Genetics and Genetic Counseling
2. Indo - US Symposium on Genomic Insights into Human Morphogenesis And First Annual Meeting of Society for Indian Academy of Medical Genetics
3. International Conference on Inborn Errors of Metabolism and 3rd National Conference of Indian Society for Inborn Errors of Metabolism
4. Genzyme-SIAMG Fellowship in Clinical Genetics
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