| 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 |
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