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