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Volume 7 | Issue 1 | January to March 2014

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January to March 2014 | Vol 7 | Issue 1 | Pages 1-2
Story of the Diagnosis of Intellectual Disability Continues: New Challenges
I remember our journey through the diagnosis of intellectual disability. We have witnessed a lot of progress over the years in the diagnostic yield for cases with intellectual disability and malformation syndromes. Until a few decades ago, cases with ID were diagnosed largely on the basis of clinical....

Shubha R Phadke
January to March 2014 | Vol 7 | Issue 1 | Pages 3-5
An entity which still occurs - Congenital Rubella Syndrome
The rubella virus is a member of the Togaviridae family, genus Rubivirus. It is spread through airborne droplets and infected people are either asymptomatic or present with symptoms mimicking upper respiratory infection. However, primary Rubella infection during pregnancy causes...

Manisha Goyal , Udhaya Kotecha , Ratna D Puri , Sanghamitra Datta , Chand Wattal , 1 1 Renu Saxena , I C Verma
January to March 2014 | Vol 7 | Issue 1 | Pages 6-10
Fragile-X Revisited- Novel Testing, Screening and Treatment Strategies
Fragile X syndrome (FXS) (MIM #30955) is among the common human single gene disorders, and is the leading cause of inherited cognitive disability and also the second most common cause of genetically associated intellectual disability following trisomy 21. The name refers to a...

Priyanka Srivastava , Shagun Agarwal
January to March 2014 | Vol 7 | Issue 1 | Pages 12-18
Approach to Intellectual Disability
Intellectual disability or mental retardation is defined as significant sub-average intellectual function existing concurrently with deficits in adaptive behaviour and manifested during the developmental period. Intellectual disability/ mental retardation (ID/ MR) has 3 components:...

Prajnya Ranganath
January to March 2014 | Vol 7 | Issue 1 | Pages 19-24
Phenylketonuria: Past, Present and Future
Phenylketonuria (PKU) is considered the epitome of inborn errors of metabolism. The history of phenylketonuria can be traced through the triumphs of medicine over inborn errors of metabolism in various fields like dietary management, newborn screening etc. It has been a...

Dr Ashwin Dalal
January to March 2014 | Vol 7 | Issue 1 | Pages 25
Same Genes, Opposite Phenotypes... & More
Disruption of 11p15 imprinted region, containing at least eight genes, results in two different fetal growth disorders, Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes, with opposite phenotypes. Either gain of methylation of imprinting center (IC) or loss of methylation of IC2 will cause BWS whereas SRS is...

G Sri Lakshmi Bhavani