Genetic Clinics
GeNeDit
January to March 2016 | Vol 9 | Issue 1 | Page No 1
Human Genome Project: A Milestone in the History of Humankind
The ambitious Human Genome Project was successfully completed in 2003 and the information about the sequences on all chromosomes became available to researchers and for patient care. This issue has an article briey describing the methodologies and issues involved in the Human Genome
Shubha R Phadke
Clinical Vignette
January to March 2016 | Vol 9 | Issue 1 | Page No 2-8
A genetic syndrome that mimics congenital TORCH infection
Warburg micro syndrome (WAflBM) or Micro syndrome is a rare, genetically heterogeneous, autosomal recessive syndrome. Patients with WAflBM present with severe mental retardation, brain anomalies (polymicrogyria and corpus callosum
Neerja Gupta 1, Seema Thakur 2 *, Mark T Handley 3, Raj Bokaria 4, Renu Saxena 5 and Sudha Kohli 5
GeNeViSTA
January to March 2016 | Vol 9 | Issue 1 | Page No 9-15
Human Genome Project and After
"What more powerful form of study of mankind could there be than to read our own instruction book" – Francis S. Collins, Director, NIH. "Along with Bach's music, Shakespeare's sonnets, and the Apollo Space Program, the Human Genome
Meenakshi Lallar and Shubha R Phadke
GeNeViSTA
January to March 2016 | Vol 9 | Issue 1 | Page No 16-20
Rapid Aneuploidy Detection (RAD) Techniques for Prenatal Diagnosis
Chromosomal abnormalities, both numerical and structural, are known to occur in approximately 1 in 200 live births. The diagnosis for chromosomal abnormalities in the antenatal period is usually done by conducting cytogenetic analysis of amniotic,
Pranita Pai, Anju Shukla and Girisha K M
GeNeXprESS
January to March 2016 | Vol 9 | Issue 1 | Page No 21-22
Next Generation Sequencing Facilitates Disease Discoveries
Next generation sequencing (NGS) has covered a long way from the lab to the clinic, especially with respect to new born screening (NBS). Whole genome sequencing (WGS) may help in detecting or ruling out not only disorders currently detected
Priyanka Srivastava
HearToHearTalk
January to March 2016 | Vol 9 | Issue 1 | Page No 23-24
The Burden of Diagnosis
I asked the resident to find out if Baby of Malini (name changed) had undergone the bone marrow transplantation. When the resident doctor called the father of the baby, we got the sad news that bone marrow transplant was not done and the
Shubha R Phadke
PhotoQuiz
January to March 2016 | Vol 9 | Issue 1 | Page No 25
This 5 year old intellectually normal girl presented with short stature and joint deformities. Radiographs of the spine, hip, knees and hands are shown. Identify the condition.
Dr. Shubha R Phadke
