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Volume 6 | Issue 3 | July-September 2013

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July-September 2013 | Vol 6 | Issue 3 | Pages 1-2
Practice of Genomic Medicine: Challenges Ahead
The twenty-first century saw a paradigm shift from clinical practice. The first of them is lack of enough genetics to genomics. Exome/whole genome and convincing evidence for the utility of many of sequencing and microarray based genome analysis these genomic medicine tests or practices in the are tools available not only for research but also for clinical settings. For example, though there is routine patient care...

Shubha R Phadke
July-September 2013 | Vol 6 | Issue 3 | Pages 3-5
Laurin-Sandrow syndrome: a case report
Laurin-Sandrow Syndrome (LSS) is a rare polydactyly wide nasal bridge (Fig 1A). Both hands showed syndrome of probable autosomal dominant symmetrical polysyndactyly of fingers and inheritance. Clinical manifestations of LSS include apparently absent thumbs (Fig 1B & 1C), although mirror image polysyndactyly of hands and feet, the lateral side fingers looked like thumbs due to mesomelic bone abnormali...

Siddram J Patil , Venkatraman Bhat
July-September 2013 | Vol 6 | Issue 3 | Pages 6-11
Approach to a child with macrocephaly: the dysmorphologist's view
Macrocephaly if present is often the reason for lesions), cerebrospinal fluid (CSF), blood volume, referral to a clinical geneticist. It is an integral part presence of subdural fluid, and overlying tissue of pediatric examination and an important diagnostic clue for a dysmorphologist. Macrocephaly is defined as head circumference...

Dr Sumita Danda
July-September 2013 | Vol 6 | Issue 3 | Pages 12-16
Banking of Genetic Material: A Key to the Future
Single gene disorders are rare by themselves but appropriate genetic material. collectively they are an important cause of morbidity and mortality. The Online Mendelian Two techniques of genetic material banking namely Inheritance in Man (OMIM) database lists more than DNA banking and lymphocyte immortalization are 5000 disorders as single gene disorders, inherited in discussed in detail here. a Mendelian fashion. Of these, the exact genetic...

Rajashree Nandagopalan , Sudheer Kumar R , Prajnya Ranganath , Ashwin B Dalal
July-September 2013 | Vol 6 | Issue 3 | Pages 17-19
Microarray in Prenatal Diagnosis
The main aim of prenatal diagnosis is to inform and is used to measure the expression levels of large couples about the risk of a birth defect or genetic numbers of genes simultaneously or to genotype disorder in their pregnancy and to help couples in multiple regions of a genome. Each DNA spot making decisions on how to manage the risk. It is −12 contains picomoles (10 moles) of a specific DNA usually performed in response to parental request, sequence, known as probes (or reporters or oligos). increased risk of fetal chromosomal abnormality...

Pallavi Kulkarni
July-September 2013 | Vol 6 | Issue 3 | Pages 20
Papa telling lies - Fair or Unfair
Life is full of situations in which it is difficult to us since the daughters were staying in a distant place. He differentiate between what is correct or wrong. said he would give the reports to his daughters and Circumstances and emotions can at times compel sensible convey to them the facts about the disease and the option people to act in an irrational manner. of prenatal diagnosis. This anecdote is about a family affected...

Dr Ashwin Dalal
July-September 2013 | Vol 6 | Issue 3 | Pages 21
Y-linked hearing loss, craniosynostosis, epilepsy and non-invasive prenatal diagnosis
It is known that the Y chromosome carries genes are likely to play important roles in the causation of related to sex determination and spermatogenesis. epilepsy. A good effort worth a look if you are Male sex determination and hairy ears are not Y- interested in epilepsy genetics! linked traits. The only contender for Y-linked Mendelian trait was a type of hearing impairment reported by Wang et al in 2004 in a large Chinese...

Girisha KM