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HIT 57
DISEASE PROCESS CHAPTER 5
Question | Answer |
---|---|
Congenital diseases are those that | appears at birth or during birth |
Which disorder is caused by abnormal chromosome structure? | Fragile X syndrome |
Syphilis 梅毒 | This kind of infection can cause congenital defects |
A person with both ovaries and testes is termed a hermaphrodite 雌雄同体 | True |
A gamete 配子 contains 46 chromosomes. | False. (males gamete called a sperm,female gamete called an ovum (or egg)) |
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 |
Which technique yields information about fetal chromosomes (胎儿染色体)after the 14th week of pregnancy? | Amniocentesis |
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 |
Which disorder exhibits trisomy 三体 of chromosome 21? | Down's syndrome 唐氏综合征 |
Which does not result in decreased mental functioning? | Cystic fibrosis 囊性纤维化 |
Color blindness is a sex-linked disease 伴性遗传疾病 | True |
Inability to clot blood is characteristic of this inherited disorder? | Hemophilia 血友病 |
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) |
An allele 等位基因 that always expresses its trait when inherited is called what? | Dominant |
Which of the following is TRUE of color blindness? | Half of the sons of a carrier mother will be color blind |
Body cells have 45 chromosomes in which disorder? | Turner's syndrome 特纳氏综合征 |
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 |
Which is the defect in phenylketoruria? | Phenylalanine metabolism |
Hypertrophy 肥厚 of a sphincter muscle causes the congenital defect called? | Pyloric stenosis 幽门狭窄 |
sporadic | Occurring at irregular intervals.intermittent: sporadic,scattered; isolated: a sporadic disease. |
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 |
cell division occurs is called? | mitosis |
gametes | are the sex cells |
A person has how many chromosomes ? | 46, 2 pairs of 23. one pair from the mother, one from the father. |
extra 21st chromosome | Down's syndrome. It is named after John Langdon Down |
Klinefelter syndrome, 47, XXY, or XXY syndrome. The syndrome was named after Dr. Harry Klinefelter | human males have an extra X chromosome. |