Human Genetics: Chromosome Structure

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What is the total number of chromosomes in human somatic cells?

46 (correct)

50

44

48

What is the classification of chromosomes 13, 14, and 15 based on their size and centromere location?

Group A

Group E

Group D (correct)

Group C

What is the frequency of occurrence of Down syndrome in live births?

1 in 665 (correct)

1 in 1000

1 in 500

1 in 2000

What is the characteristic feature of Turner's syndrome?

A single X chromosome in females Signup and view all the answers

What is the result of a deficiency of the short arm of chromosome 5?

Cri-du-chat syndrome Signup and view all the answers

What is the frequency of occurrence of Klinefelter's syndrome in male births?

1 in 1000 Signup and view all the answers

What is the result of a translocation between chromosomes 21 and 14?

Down syndrome Signup and view all the answers

What is the enzyme deficient in galactosemics?

Gal-1-P uridyl transferase Signup and view all the answers

What is the characteristic feature of Philadelphia chromosomes?

Translocation involving chromosomes 9 and 22 Signup and view all the answers

What is the result of a deletion of a small segment of chromosome X?

Duchene muscular dystrophy Signup and view all the answers

What is the effect of excess phenylpyruvic acid on tryptophan conversion?

It inhibits the conversion of tryptophan into serotonin Signup and view all the answers

What is the characteristic of an X-linked recessive disease?

No offspring of an affected male are affected Signup and view all the answers

What is the result of a mutation in the cystic fibrosis transmembrane regulator?

Alteration of the conformation of chloride channels in epithelial cell membranes Signup and view all the answers

What is the probability that an additional child will be affected in a recessive disease?

1/4 Signup and view all the answers

What is the characteristic of a dominant disease?

The trait always occurs in every generation Signup and view all the answers

What is the result of a mutation in the phenylalanine hydroxylase enzyme?

Decreased conversion of phenylalanine to tyrosine Signup and view all the answers

What is the characteristic of an X-linked dominant disease?

Approximately half the offspring of affected females are affected Signup and view all the answers

What is the result of a mutation in the beta globin chain?

Decreased production of beta globin chains Signup and view all the answers

What is the effect of a lack of galactose-1-phosphate uridyl transferase?

Decreased conversion of galactose to glucose Signup and view all the answers

What is the probability that an additional child will be affected in a dominant disease?

1/2 Signup and view all the answers