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Patho chap 5

hereditary diseases

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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