'Single gene defect' diaporamas de présentation

LANGUAGE DELAY

LANGUAGE DELAY. Cognitive Development. LANGUAGE. LANGUAGE DELAY. Failure to speak single words by 18 months and phrases by 30 months. (Speech and Language Impairment). PREVALENCE. 10-15 % of toddlers

685 views • 45 slides

Dr . Muhammad Rafique Assist. Prof. Paediatrics College of Medicine K K U Abha K S A

Dr . Muhammad Rafique Assist. Prof. Paediatrics College of Medicine K K U Abha K S A. PRENATAL DIAGNOSIS. It introduces option for management. From interruption of abnormal pregnancies to prepare for specialized peri-natal care. PRENATAL Dx.------CONT. Methods of prenatal diagnosis :

527 views • 41 slides

Genetic Testing in Pregnancy

742 views • 35 slides

Male , 36 years of age

Male , 36 years of age. Impaired fasting glucose since 1988 (21 years of age) R/ diet alone Lean, 177cm and 57,2 kg, was never obese No complaints, coincidental finding during check up Medical history negative

626 views • 33 slides

Rett Syndrome

Rett Syndrome. Neurobiology of Disease. Rett Syndrome. 2nd most common genetic cause of Mental Retardation Early development normal ? loss of language, cognitive and motor abilities Single gene defect: Mecp2 KO (Jaenisch, Bird) recapitulates disease, as does forebrain neuron selective KO.

1.17k views • 17 slides

Gene Therapy

272 views • 8 slides