Genetics Essay

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Extraordinary Children in an Ordinary World… Definition of Genetics To emphasize the two “presentations of Genetic Disorders” – Dysmorphism and IEM Discuss the Categories of Genetic Disorders and give common examples Approach to a Child with Dysmorphism Aproach to a Child with Inborn Error of Metabolism What’s new in Genetics? Take Home Points “Human Genetics” “Weird creatures” “Mga batang kakaiba” “Mga pinaglihi sa palaka, tutubi, isda, dwende, suso, ahas at iba pa...” FLK : Funny looking kids Mentally retarded children Intellectually Challenged individuals Kids with high tech diagnosis “Far better is to dare mighty things, to win glorious triumphs, eventhough checkered by failure, than to take rank with those poor spirits who neither enjoy much nor suffer much, because they live in the great twilight that knows neither victory nor defeat.” Theodore Roosevelt, in a speech before the Hamilton Club, Chicago, April 10, 1899 [pic] What happen during conception? The egg of the mother will contribute 23 chromosomes, the sperm of the father will contribute the other 23 chromosomes HUMAN GENETIC DISEASES Genetic Disorders Single-gene disorders Chromosomal disorders Multifactorial diseases Chromosomal Disorders MALFORMATIONS Chromosomal Disorders A. Change in Chromosome Number- The Trisomies –Downs, Edward’s,Patau The Monosomy – Turner’s The Polysomies – Klinefelter’s B. Change in Chromosome Structure- Duplications – Duplication 9p S, Charcot-Marie-Tooth disease Insertions Deletions – Cry du Chat (5pdeletion);DiGeorge ABNORMALITIES OF CHROMOSOME STRUCTURE Translocations Inversions Deletions Duplications Cri-du-chat syndrome (5p- ) Main features Hypotonia short stature characteristic cry microcephaly with protruding metopic suture moonlike face hypertelorism bilateral epicanthic folds high arched

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