OVERVIEW
About Me
Dr Manisha Goyal is a Medical Geneticist based in Jaipur and giving her services in the field of Medical Genetics
Research & Publications
Presentation in Conferences: Invited as speaker to talk over Genetics & its Application (Emphasis on treatable LSD) in RAJPEDICON 2019” 29th Nove...
Contact
Plot No. 74, Geejgarh Vihar, Hawa Sadak, 22 Godam, Jaipur… Monday – Saturday 5PM – 7PM Rest by Appointment
INTRODUCTION TO GENETIC DISORDERS
Genetic Disorders
Genetic disorders are caused by a defect in genes or chromosomes. Common presentations like developmental delay, muscle weakness, seizures, unusual facial features etc. could be because of an underlying genetic abnormality. Contrary to our beliefs these disorders are not always present in multiple generations for example thalassemia one of the most prevalent genetic disorders in India usually occurs in families with no previous history.
A correct diagnosis is important to ensure proper management. Expert guidance enables these individuals to cope with their disease, ensures early and specific…
Down Syndrome
Down syndrome can affect a person's cognitive ability and physical growth, cause mild to moderate developmental issues, and present a higher risk of some health problems.
Using a series of screenings and tests, healthcare professionals can detect Down syndrome before or after birth.
Down syndrome occurs in around 1 in every 700 pregnancies. It is determined by many factors, but research suggests that there is a higher chance if the mother is older than 35 years of age.
