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IAMG

Volume 11 | Issue 2 | April to June 2018

ISSN : 2454-8774
 
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GeNeDit

April to June 2018 | Vol 11 | Issue 2 | 1
Face to Face with our Genes
Human face is the mirror to our brains. Face is an important part of the body. We identify ourselves and others based on the facial characteristics. Human face gives identity to an individual. The embryonic development of human face involves complex interplay of large number of developmental events. Hence it ...

Ashwin Dalal
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Clinical Vignette

April to June 2018 | Vol 11 | Issue 2 | 2-4
Fetal Schizencephaly Associated with Complex Cardiac and Limb Defects
We report a case of prenatally diagnosed schizencephaly in association with cardiac and limb defects. The diagnosis was made by antenatal ultrasound and fetal echocardiography at 28 weeks of gestation and corroborated by fetal MRI. There was unilateral open lip schizencephaly along with limb defects and cardi...

Mamatha Gowda, Mangala Gowri K
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GeNeViSTA

April to June 2018 | Vol 11 | Issue 2 | 5-9
Genetics of Congenital Abnormalities of Kidney and Urinary Tract (CAKUT)
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) are amongst the most common malformations in humans. Most CAKUT are sporadic in origin though single gene mutations have been identified in syndromic and some non-syndromic CAKUT. This article briefly reviews the recent advances in the genetics of C...

Dhanya Lakshmi N
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GeNeViSTA

April to June 2018 | Vol 11 | Issue 2 | 10-17
Genetics of Premature Ovarian Failure
The term premature ovarian failure (POF) refers to the cessation of menses in a woman prior to the age of forty years. It is characterized by amenorrhea (either primary or secondary) and hypergonadotropic hypogonadism (level of serum follicle stimulating hormone (FSH) >40mIU/ml) (Coulam et al.,1982). The gene...

Vijayalakshmi SR, Shagun Aggarwal
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GeNeXprESS

April to June 2018 | Vol 11 | Issue 2 | 18-19
Whole Genome Sequencing as a Diagnostic Tool: Utility and Challenges
With the recent technical developments in analyzing big data, whole genome sequencing has unlocked a whole new way in clinical genomics to evaluate various rare diseases, including the highly heterogenous group of inherited retinal diseases (IRD). Illumina Hiseq sequencing has given it a new direction through...

Amrita Bhattacherjee
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PhotoQuiz

April to June 2018 | Vol 11 | Issue 2 | 20
This 2.5 years-old female child, the fourth offspring of non-consanguineous parents, presented with history of painful, hard swellings on the back. Her developmental milestones were normal. There was no significant family history. Identify the condition....

Dr. Prajnya Ranganath
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GeNeEvent

Manipal Genetics Update V on Genomics of Neurodevelopmental Disorders and PediGen 2018


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Announcements

1. Seventeenth ICMR Course in Medical Genetics & Genetic Counseling
2. SIAMG−Genzyme Fellowship Program in Clinical Genetics
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