安徽医科大学：《医学遗传学》课程教学资源（课件讲稿，打印版）06-clinical cytogenetics 01 disorders of the autosomes and the sex chromosomes

Medical Genetics Chapter 6 Clinical cytogenetics:disorders of the autosomes and the sex chromosomes This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Outline Overview and concepts. Down syndrome, Trisomy 18, Trisomy 13. The sex chromosomes and their abnormalities: Klinefelter syndrome, Turner syndrome, 47,XYY, Poly X syndrome, Hermaphroditism. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Chromosome disorders Common clinical manifestation: ●Growth retardation; ●Mental retardation; Congenital malformation; ●Usually sporadic; Dermatoglyphic change. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 1.Autosomal disorders Down syndrome(trisomy 21 syndrome); ● Edward syndrome(trisomy 18 syndrome); Patau syndrome(trisomy 13 syndrome); Cat's cry syndrome(5p-syndrome). This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics 1.1 Down syndrome Phenotype: Mongoloid facial(21q22) Inner eye angles masked by epicanthal folds, Nose:short with nasal bridge, Mouth:Small with thick and protruding tongue, Ears:round and small,low-set. 。Mental retardation .IQ of 50 at the age of 5 years, IQ of 38 at around of 15 years. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Down syndrome Phenotype: The hand are short and broad,often with a single transverse palmar crease (simian crease); Congenital heart disease in at least 1/3 liveborn infants; 15-fold increase in the risk of leukemia; ●Alzheimer disease; ●Incidence:1/800. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Down syndrome simian crease This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Down syndrome Growth failure Broad flat face Mental retardation Slanting eyes Flat back of head Epicanthic eyetold Short nose Abnormal ears Short and Many"loops"一 broad hands on finger tips Small and Palm crease arched palate Big,wrinkled Special skin tongue ridge patterns Dental anomalies Unilateral or bilateral absence of one rib Congenital heart Intestinal blockage disease Umbilical hernia Enlarged colon Abnormal pelvis Big toes widely Diminished muscle tone spaced (a) This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Down syndrome This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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Medical Genetics Down syndrome Ears:The ears are small with an overfolded helix. This document is produced by trial version of Print2Flash.Visit www.print2flash.com for more information

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