复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）12 多基因遗传疾病 Polygenetic disorders

Medical Genetics 12多基因遗传疾病 olygenetic disorders

Medical Genetics 12 多基因遗传疾病 Polygenetic disorders

Medical Genetics 表7-1一些常见的多基因遗传病和先天畸形的发病率和遗传度 「群体发病率(%)患者一级亲属的发病率(%)男:女遗传度(%) 唇裂±腾裂( clef lip± plate lip) 0.17 1.6 腭裂( plate lip) 0.04 0.7 先天性髖关节脱位( congenital 0.1-0.2 0.2 dislocation of the hip joint) 先天性幽门狭窄 0.3 男性先证者2 5.0 (congentital pylorus stenosis) 女性先证者10 先天性畸形足 0.1 2,0 (congenital deformity foot) 先天性巨结肠 男性先证者2 4.0 (congenital megacolon) 女性先证者8 脊柱裂( cleft spine) 0.3 4 0.8 无脑儿( anencephaly) 0.5 0.8 先天性心脏病(各型) 0.5 2.8 (congenital heart defects) 精神分裂症( schizophrenia) 0.1~0.5 4-8 糖尿病(青少年型) 0.2 2~5 (diabetes mellitus Juvenile) 原发性高血压( essential hypertension) 4-10 15-30 冠心病 2.5 1.5 (coronary arteriosclerotic heart disease) 支气管哮踹( bronchial asthma) 708 0.8 消化性胃溃疡( peptic ulcer) 强直性脊柱炎( ankylosion spondyliti 0.2 男性先证者7 0.2 女性先证者2

Medical Genetics

Medical Genetics 1. schizophrenia sP Schizophrenia is a humorous brain disorder characterized by delusional thinking and unique but unpopular perceptions

Medical Genetics 1. schizophrenia , SP Schizophrenia is a humorous brain disorder characterized by delusional thinking and unique but unpopular perceptions

Medical Genetics Mental health professionals normally diagnose this illness if, during any one- month period of a person's life, that person has suffered two or more of the following Delusions Hallucinations Disorganized speech Grossly disorganized or catatonic behavior Negative symptoms

Medical Genetics Mental health professionals normally diagnose this illness if, during any one￾month period of a person’s life, that person has suffered two or more of the following: Delusions Hallucinations Disorganized speech Grossly disorganized or catatonic behavior Negative symptoms

Medical Genetics Negative symptoms are the most insidious behavioral effects of schizophrenia. They can include low levels of Interest Motivation Emotional arousal Mental activity Social drive Speech

Medical Genetics Negative symptoms are the most insidious behavioral effects of schizophrenia. They can include low levels of: Interest Motivation Emotional arousal Mental activity Social drive Speech

Medical Genetics Schizophrenia is equally represented in women and men the onset of the lIness generally occurs at a later age in women than in men(between ages 23 and 35 in women versus 18 to 25 for men) Not only do women generally present with schizophrenia at later ages but the phenomenon of late onset schizophrenia (40+ years) is almost entirely a female one

Medical Genetics Schizophrenia is equally represented in women and men. The onset of the illness generally occurs at a later age in women than in men (between ages 23 and 35 in women versus 18 to 25 for men). Not only do women generally present with schizophrenia at later ages, but the phenomenon of late onset schizophrenia (40+ years) is almost entirely a female one

Medical Genetics varn disorder Positive symptoms Avolition/ Anhedonia/Atent flattening apathy asociality impairment Negative symptoms Manies TApoNt Dysphoria Mood svmp toms

Medical Genetics

Medical Genetics Women tend to display more prominent mood symptoms and men more negative symptoms. In the first episode of schizophrenia, women are more likely to display intense irritability, anger, and sadness men are more likely to be withdrawn and emotionally apathetic After the first episode these distinctions begin to blur. PMs is not an indication of the onset of schizophrenia in women although the symptoms are strikingly similar

Medical Genetics Women tend to display more prominent mood symptoms and men more negative symptoms. In the first episode of schizophrenia, women are more likely to display intense irritability, anger, and sadness; men are more likely to be withdrawn and emotionally apathetic. After the first episode, these distinctions begin to blur. PMS is not an indication of the onset of schizophrenia in women, although the symptoms are strikingly similar

Medical Genetics Subtypes of Schizophrenia 1. Disorganized Type 2. Catatonic Type 3. Paranoid Type 4. Undifferentiated Type 5. Residual Type

Medical Genetics Subtypes of Schizophrenia 1. Disorganized Type 2. Catatonic Type 3. Paranoid Type 4. Undifferentiated Type 5. Residual Type

Medical Genetics Disorganized Type This subtype of schizophrenia is marked by significant regression to primitive, uninhibited, and disorganized behavior. Thumb-sucking, howling like a wolf, temper tantrums, creation of pornographic art and unreasonably strong cravings to suckle a female's breast are characteristic of this type

Medical Genetics Disorganized Type This subtype of schizophrenia is marked by significant regression to primitive, uninhibited, and disorganized behavior. Thumb-sucking, howling like a wolf, temper tantrums, creation of pornographic art and unreasonably strong cravings to suckle a female’s breast are characteristic of this type