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Volume 6 | Issue 3 | July-September 2013 |
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| GeNeDiT | ||
| 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 |
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| ClinicalVignette | ||
| 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 |
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| GeNeViSTA | ||
| 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 |
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| GeNeViSTA | ||
| 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 |
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| GeNeViSTA | ||
| 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 |
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| HearToHearTalk | ||
| 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 |
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| GeNeXprESS | ||
| 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 |
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