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Volume 3 | Issue 2 | April-June 2010

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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
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
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
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
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