Lecture 5 DrJones BIMM

Lecture 5 DrJones BIMM - Human Genetics and Birth Defects...

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Human Genetics and Birth Defects Kenneth Lyons Jones Department of Pediatrics University of California, School of Medicine La Jolla, CA
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Sherlock Holmes, an excellent, if fictional diagnostician, noticed the most subtle clues that might lead to the solution of a crime. Physician/Scientists who study human birth defects strive to emulate Holmes in the way they find subtle patterns of common defects that lead to disease diagnosis
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The importance of a diagnosis of a specific syndrome • Prognosis, i.e. it allows parents to anticipate "what this condition will mean to my child, and our family" • Recurrence risk – it also allows parents to learn about their chances of having another child with the same or similar condition/syndrome
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XXY Syndrome Performance. I.Q from well below to well above average. Mean full-scale I.Q. between 85 and 90. Tendency toward behavior problems, especially immaturity, insecurity, shyness, poor judgment, and unrealistic boastful and assertive activity. The formation of peer relationships is difficult. Problems with psychosocial adjustment are increased, although significant psychiatric difficulties are not often encountered. Growth. Tendency from childhood toward long limbs, with low upper to lower segment ratio and relatively tall and slim stature. Hypogonadism with Hypogenitalism. Childhood: Relatively small penis and testes. Adolescence and adulthood: Testes remain small. With rare exception, testosterone production is inadequate. Infertility is the rule. Virilization is usually partial and inadequate.
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example XXY male
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XYY Syndrome Growth. Acceleration in midchildhood. Performance. Dull mentality. Full-scale I.Q. is within normal limits although usually lower than siblings (range, 80 to 140). Relative weakness, with poor fine motor coordination and sometimes a fine intentional tremor. Speech delay common. Learning disabilities (50 per cent). Dentition. Large teeth. Skin. Severe nodulocystic acne at adolescence.
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example of an XYY male
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Natural history XYY Tall stature evident after 5 to 6 years of age. Affected boys are usually not strong or well coordinated
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This note was uploaded on 03/31/2009 for the course BIMM BIMM 110 taught by Professor Mcginnis during the Winter '09 term at UCSD.

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Lecture 5 DrJones BIMM - Human Genetics and Birth Defects...

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