20 Questions
What is the total number of chromosomes in human somatic cells?
46
What is the classification of chromosomes 13, 14, and 15 based on their size and centromere location?
Group D
What is the frequency of occurrence of Down syndrome in live births?
1 in 665
What is the characteristic feature of Turner's syndrome?
A single X chromosome in females
What is the result of a deficiency of the short arm of chromosome 5?
Cri-du-chat syndrome
What is the frequency of occurrence of Klinefelter's syndrome in male births?
1 in 1000
What is the result of a translocation between chromosomes 21 and 14?
Down syndrome
What is the enzyme deficient in galactosemics?
Gal-1-P uridyl transferase
What is the characteristic feature of Philadelphia chromosomes?
Translocation involving chromosomes 9 and 22
What is the result of a deletion of a small segment of chromosome X?
Duchene muscular dystrophy
What is the effect of excess phenylpyruvic acid on tryptophan conversion?
It inhibits the conversion of tryptophan into serotonin
What is the characteristic of an X-linked recessive disease?
No offspring of an affected male are affected
What is the result of a mutation in the cystic fibrosis transmembrane regulator?
Alteration of the conformation of chloride channels in epithelial cell membranes
What is the probability that an additional child will be affected in a recessive disease?
1/4
What is the characteristic of a dominant disease?
The trait always occurs in every generation
What is the result of a mutation in the phenylalanine hydroxylase enzyme?
Decreased conversion of phenylalanine to tyrosine
What is the characteristic of an X-linked dominant disease?
Approximately half the offspring of affected females are affected
What is the result of a mutation in the beta globin chain?
Decreased production of beta globin chains
What is the effect of a lack of galactose-1-phosphate uridyl transferase?
Decreased conversion of galactose to glucose
What is the probability that an additional child will be affected in a dominant disease?
1/2
Learn about the structure of human chromosomes, including the number of chromosomes in somatic cells, autosomes, and sex chromosomes. Understand the classification of human chromosomes into groups based on size and centromere location.
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