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Patho chap 5
hereditary diseases
| Question | Answer |
|---|---|
| Which is an autosomal recessive disease? | Phenylketonuria |
| Which disorder is caused by abnormal chromosomal structure? | Fragile X syndrome |
| Chromosomes are composed of: | DNA molecules |
| An abnormal number of chromosomes is the cause of which disease? | Down's syndrome |
| Which does NOT result in decreased mental functioning? | cystic fibrosis |
| Hypertrophy of a sphincter muscle causes the congenital defect called: | pyloric stenosis |
| How many chromosomes does a gamete contain? | 23 |
| When alleles are the same, the genotype is said to be: | homozygous |
| Which is the defect in phenylketonuria? | no melanin produced |
| Which disorder is NOT inherited with the X chromosome? | achondroplasia is autosomal dominant |
| Body cells have 45 chromosomes in which disorder? | Turner's Syndrome. appears female but lacks ovaries, lacks second sex chromosome. XO |
| Which is a sex anomaly? | Klinefelter's syndrome, 47 chromosomes, XXY |
| Which of the following is a congenital defect involving lack of a normal opening in a body system? | esophageal atresia |
| How many autosomes does a gamete contain? | 44 |
| Which of the following is TRUE of color blindness? | half of the sons born of a carrier mother will be color blind |
| An allele that always expresses its trait when inherited is called: | dominant |
| The karyotype is | the chromosomal composition of the nucleus |
| Galactosemia and PKU are both | inborn errors of metabolism |
| Congenital diseases are those that | appear at birth or during birth |
| Which of the following infections cause congenital defects? | syphilis |
| Polydactyly and achondroplasia are examples of: | autosomal dominant disorders |
| The term used to describe a person with both ovaries and testes is | hermaphrodite |
| Which is a sex linked disease? | color blindness |
| An adult with 47 chromosomes who appears to be male but has small, sterile testes and enlarged breasts plus female hair development probably has | Klinefelter's syndrome |
| Inability to clot blood is characteristic of this inherited disorder? | hemophilia |
| Which is an autosomal dominant disorder? | polydactyly |
| Which technique yields information about fetal chromosomes after the 14th week of pregnancy? | amniocentesis |
| Which disorder exhibits trisomy of chromosome 21? | Down's syndrome |
| The allele for color blindness is on the _____ chromosome. | X |
| ________ is a multi-systemic disease resulting from the dysfunction of the gene that codes for the connective tissue protein fibrillin. | Marfan syndrome |
| __________ involves removing cells from the villi through the cervix. | chorionic villus sampling |
| Alternate forms of a gene | Alleles |
| failure of two chromosomes to separate as the gametes, either the egg or the sperm, are being formed | nondisjunction |
| T/F Familial hypercholestrolemia is a common cause of cardiovascular disease in the US. | True |
| T/F A female may have the sex-linked disease if she is homozygous for the recessive gene. | True |
| There are no treatments available for hereditary diseases. | False |
| Sickle cell anemia is an autosomal recessive disorder. | True |
| Autosomes determine gender. | False |
| People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time. | True |
| If one parent is normal for a particular condition, each child has a 50% chance of being affected and manifesting the genetic defect. | True |
| Sex cells divide by a process called mitosis. | False |
| Phenylketonuria is caused by an autosomal dominant allele. | False, autosomal recessive |
| Identical alleles | Homozygous |
| Cri du chat syndrome | deletion of part of the short arm of chromosome 5 |
Created by:
EHamilton
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