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Volume 7 | Issue 3 | July to September 2014 |
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GeNeDit |
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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 |
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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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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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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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Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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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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Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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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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Abstract | HTML Full Text | Download PDF |
PhotoQuiz |
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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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View PhotoQuiz | Click here to send your answer |
Announcements |
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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