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Volume 3 | Issue 2 | April-June 2010 |
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GeNeDiT | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 1-2 | ||
History of Down Syndrome: Journey of Clinical Genetics | ||
Fifty years ago, a French scientist, Lejeune discovered that Down syndrome is caused by an extra copy of the smallest chromosome, i.e. chromosome 21. The phenotypic description of Down syndrome was given by Sir Langdon Down in 1866. But long before that, the characteristic phenotype was identified by Esquire (1838)... Shubha R Phadke |
Clinical Vignette | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 3-4 | ||
Raine Syndrome | ||
A fetus at 20 weeks of gestation was identified to have
proptosis, short broad nose with depressed nasal bridge,
carp shaped mouth, micrognathia, narrow thorax and
calcification of brain on ultrasound. Autopsy of the fetus
confirmed the above findings. In addition, the fetus had
generalized osteosclerosis, leading us to the diagnosis of
Raine syndrome. Only 13 cases have been reported in the
literature so far.... Sujatha Jagadeesh , Lathaa Bhat , Indrani Suresh , S Lata Muralidhar |
GeNeViSTA | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 5-8 | ||
Genetics of Diabetes Mellitus | ||
There is a continuous spectrum of diseases from the disorders that are strictly genetic and caused by fully penetrant mutations with minimal contribution from the environment to those caused predominantly by environment
factors (like teratogens) with minimal contribution from genetic factors. Between these two ... Neerja Gupta |
GeNeViSTA | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 9-11 | ||
Recurrent Pregnancy Loss: From Chromosomes to Genes | ||
Recurrent pregnancy loss (RPL), also known as recurrent
spontaneous abortions, habitual abortions, or recurrent
miscarriages are traditionally defined as 3 or more
consecutive pregnancy losses at less than 20 weeks of
1 gestation. Two to 5 percent of couples experience RPL.
The cause of RPL is difficult to assess and in fact, no cause
can be determined in half of the cases in spite of a battery... Meenal Agarwal, Shubha R Phadke |
GeNefOcuS | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 12 | ||
Medical Genetics in India – What needs to be done? | ||
Genetics in India has come a long way, but it still has a long way to go. All that we have been able to achieve so far is some demonstration of its utility, some creation of demand and some generation of interest in medical students and trainee doctors1. But a large mass of medical profession, public at large and government remain... SS Agarwal |
GeNeXprESS | ||
April-June 2010 | Vol 3 | Issue 2 | Pages 13 | ||
Fetal loss due to Thrombophilia AND others : Feto-materno-paternal unit shares the onus | ||
Thrombophilia has extensively been studied in obstetric complications particularly with intrauterine fetal demise. Majority of studies done till now have focused on genetic contribution by mother. Tranquilli, et al have tried to correlate the fetal genotype in placental samples in third trimester fetal loss. Fetal genotype in 86 primiparous ... Meenal Agarwal |