Genetic Disorders Notes PDF
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Uploaded by InvigoratingSelkie
Universiti Kebangsaan Malaysia
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Summary
This document provides notes on various genetic disorders, including Down syndrome, Turner's syndrome, and Edward's syndrome. It covers topics such as types, risk factors, clinical features, and management of these conditions.
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GENETIC & CHROMOSOMAL DISORDERS 1 DOWN SYNDROME Types of Down Syndrome Nondisjunction Translocation Mosaicism https://youtu.be/ze_6VWwLtOE ...
GENETIC & CHROMOSOMAL DISORDERS 1 DOWN SYNDROME Types of Down Syndrome Nondisjunction Translocation Mosaicism https://youtu.be/ze_6VWwLtOE 2 - Keratoconus occurs when your cornea thins and gradually bulges outward into a cone shape. - Lazy eye (amblyopia) is reduced vision in one eye caused by abnormal visual development early in life. - Nystagmus is an involuntary rhythmic side-to-side, up and down or circular motion of the eyes that occurs with a variety of conditions. - Ptosis is when the upper eyelid droops over the eye. - A cataract is a cloudy lens. 3 Hippocampus is a complex brain structure embedded deep into temporal lobe. It has a major role in learning and memory. Lennox-Gastaut syndrome is a severe form of epilepsy. DIAGNOSIS TURNER’S SYNDROME 4 5 EDWARD’S SYNDROME PRADER-WILLI SYNDROME 6 7 CLEFT LIP & PALATE