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Volume 3 | Issue 4 | October-December 2010

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October-December 2010 | Vol 3 | Issue 4 | Pages 2-3
Genetic Testing and Clinicians…. and Patients
DNA is the basic molecule of life! No wonder it encompasses all fields of biology and medicine. Now there is a lot of information available about human DNA, mutations and their effect on health. With the recombinant DNA technology, medicine has reached a new 'molecular' level and entered an era of 'Molecular Medicine'. This has made a tremendous impact on the...

Shubha R Phadke
October-December 2010 | Vol 3 | Issue 4 | Pages 1
Amniotic cavity full….. LOVE!
Two of my old patients turned up in the OPD today. I was seeing them in person for the first time! I had seen these patients 'in utero' while doing ultrasonographic examination. One was diagnosed as holoprosencephaly at 28 weeks of gestation and case two was diagnosed as tricuspid atresia at 18 weeks of gestation...

Dr Shubha Phadke
October-December 2010 | Vol 3 | Issue 4 | Pages 4-10
Cure for Duchenne Muscular Dystrophy: The Search continues
Duchenne muscular dystrophy (DMD) is a progressive, lethal, X-linked recessive disorder of skeletal and cardiac muscle affecting nearly 1 in 3500 live male births. DMD is caused by mutation of the dystrophin gene that provides a vulnerable target for new mutations. The cardiac and skeletal muscles of patients with DMD are deficient in...

Sameer Bhatia
October-December 2010 | Vol 3 | Issue 4 | Pages 11-14
Utility of Molecular studies in Skeletal Dysplasias
Skeletal dysplasias or osteochondrodysplasias are a toclinically heterogeneous group of genetic disorders characterized by the presence of generalized disordered bone growth and/or modeling. Overall incidence of skeletal dysplasias is approximately 1 case per 4,000 to 5,000 births while the overall frequency of skeletal...

Risha Nahar, Ratna D Puri, Renu Saxena, Sudha Kohli, I C Verma
Clinical vignette
October-December 2010 | Vol 3 | Issue 4 | Pages 15-16
Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz syndrome)
Nevoid basal cell carcinoma syndrome (NBCCS) an autosomal dominant disorder is one of the hereditary cancer predisposition disorders. NBCCS is a single gene disorder caused by mutation in Patched (PTCH1) gene, 1 localized to chromosome 9q22.3. Major clinical manifestations are multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar pits, and various skeletal 2 features. Clinical manifestations in NBCCS are highly...

Dr. S. J. Patil
October-December 2010 | Vol 3 | Issue 4 | Pages 17
Microarray for all…
Array genomic hybridization (AGH) has a much better resolution and yield in detecting chromosomal imbalances causing unexplained mental retardation (MR) than conventional cytogenetic techniques such as karyotyping. However, the cost has always been presumed to be a prohibitive factor in using this ...

Dr Prajnya Ranganath