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DISEASE PROCESS CHAPTER 5

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Question
Answer
Congenital diseases are those that   appears at birth or during birth  
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Which disorder is caused by abnormal chromosome structure?   Fragile X syndrome  
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Syphilis 梅毒   This kind of infection can cause congenital defects  
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A person with both ovaries and testes is termed a hermaphrodite 雌雄同体   True  
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A gamete 配子 contains 46 chromosomes.   False. (males gamete called a sperm,female gamete called an ovum (or egg))  
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Which is an autosomal 常染色体显性遗传 dominant 主导 disorder?(常染色体显性遗传疾病)   Polydactyly 多趾  
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Which technique yields information about fetal chromosomes (胎儿染色体)after the 14th week of pregnancy?   Amniocentesis  
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Polydactyly and achondroplasia 软骨发育不全 are examples of automsomal dominant disorders.(常染色体显性遗传疾病)   True  
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Which disorder exhibits trisomy 三体 of chromosome 21?   Down's syndrome 唐氏综合征  
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Which does not result in decreased mental functioning?   Cystic fibrosis 囊性纤维化  
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Color blindness is a sex-linked disease 伴性遗传疾病   True  
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Inability to clot blood is characteristic of this inherited disorder?   Hemophilia 血友病  
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Galactosemia 半乳糖血症 and PKU are both what?   Inborn errors of metabolism 遗传性代谢病的错误 (inborn errors 先天性错误)  
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An allele 等位基因 that always expresses its trait when inherited is called what?   Dominant  
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Which of the following is TRUE of color blindness?   Half of the sons of a carrier mother will be color blind  
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Body cells have 45 chromosomes in which disorder?   Turner's syndrome 特纳氏综合征  
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An adult with 47 chromosomes who appears to be male but has small, sterile testes and enlarged breasts plus female hair development probably has what disorder?   Klinefelter's syndrome 克氏综合征  
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Which is the defect in phenylketoruria?   Phenylalanine metabolism  
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Hypertrophy 肥厚 of a sphincter muscle causes the congenital defect called?   Pyloric stenosis 幽门狭窄  
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sporadic   Occurring at irregular intervals.intermittent: sporadic,scattered; isolated: a sporadic disease.  
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MUTATION   a sudden departure from the parent type in one or more heritable characteristics, caused by a change in a gene or a chromosome. 转移  
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cell division occurs is called?   mitosis  
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gametes   are the sex cells  
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A person has how many chromosomes ?   46, 2 pairs of 23. one pair from the mother, one from the father.  
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extra 21st chromosome   Down's syndrome. It is named after John Langdon Down  
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Klinefelter syndrome, 47, XXY, or XXY syndrome. The syndrome was named after Dr. Harry Klinefelter   human males have an extra X chromosome.  
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