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HIT 57


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.
Created by: Lilyn Ta