INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

April to June 2018| Vol 11 | Issue 2 | Page No 1-2

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.

Clinical Vignette

April to June 2018| Vol 11 | Issue 2 | Page No 3-4

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.

Mamatha Gowda, Mangala Gowri K

GeNeViSTA

April to June 2018| Vol 11 | Issue 2 | Page No 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.

Dhanya Lakshmi N

GeNeViSTA

April to June 2018| Vol 11 | Issue 2 | Page No 10-18

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).

Vijayalakshmi SR, Shagun Aggarwal

GeNeXprESS

April to June 2018| Vol 11 | Issue 2 | Page No 19-20

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).

Amrita Bhattacherjee

PhotoQuiz

April to June 2018| Vol 11 | Issue 2 | Page No 21

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.

Dr. Prajnya Ranganath