Genetics Exam Questions PDF

## Genetics Questions ### Question 1 Two spouses are healthy carriers for a disease with autosomal recessive inheritance. What is the probability that their first child will be sick? - 50% - Cannot be predicted - 75% - 100% - 25% ### Question 2 An individual (male) with 47 chromos...

## Genetics Questions ### Question 1 Two spouses are healthy carriers for a disease with autosomal recessive inheritance. What is the probability that their first child will be sick? - 50% - Cannot be predicted - 75% - 100% - 25% ### Question 2 An individual (male) with 47 chromosomes, with an extra chromosome 13, is defined as: - Trisomic - None of the above - Triploid - Triplet - Trivalent ### Question 3 Duchenne muscular dystrophy is transmitted according to an X-linked recessive inheritance. A healthy carrier woman is about to have a male child. What is the probability that this child will have the disease? - 25% - 50% - None of the answers - 100% - 10% ### Question 4 How many autosomes are present in a haploid human genetic set? - 46 - 21 - None of the previous numbers - 22 - 44 ### Question 5 A dominant character is: - A character located on the X chromosome - A character that manifests in both homozygous and heterozygous conditions - A character that manifests only in heterozygous conditions - A character that manifests only in homozygous conditions - A character located on the Y chromosome ### Question 6 In rabbits, the black character is dominant over white. A black female whose mother was white is crossed with a white male. With what probability will black offspring be born? - 25% - 50% - 100% - 75% - 5% ### Question 7 The probability of a couple, one of whom is heterozygous for an autosomal recessive mutation and the other homozygous sick, having a sick child is: - 25% - 50% - 10% - None of the answers - 100% ### Question 8 What's the karyotype of Down syndrome? - 47, (+18) - 46, XY - 45, X0 - 47, (+13) - 47, (+21) ### Question 9 Indicate what an aneuploidy can consist of. - A duplication of a segment of a chromosome - A chromosome with a deletion - A normal number of chromosomes - A number of chromosomes one less than the normal number - A number of chromosomes multiple of a haploid set ### Question 10 Assume that in the horse the WW genotype confers a reddish-brown color, Ww genotype a gold color, ww genotype a white color. A white male is crossed with a gold female. What frequency of phenotypes do you expect in the offspring? - Gold 50%, white 50% - Reddish-brown 25%, gold 50%, white 25% - Gold 100% - White 100% - Reddish-brown 50%, gold 25%, white 25% ### Question 11 In an individual's genotype, the alleles of a given gene are: - One of paternal origin and the other maternal origin - Always different - Always identical - Both of paternal origin - Both of maternal origin ### Question 12 Cystic fibrosis is a disease with autosomic recessive inheritance. A healthy carrier is: - Hemizygous - Heterozygous - Heterogeneous - Homozygous dominant - Homozygous recessive ### Question 13 In a reciprocal balanced translocation: - There is both loss and gain of the genome - There is gain of the genome - The subject with this translocation is always severely affected - There is loss of the genome - There is no loss or gain of the genome ### Question 14 What is the karyotype of Klinefelter syndrome? - 47 XXX - 46 XY - 47 XYY - 47 XXY - 45 XO ### Question 15 Indicate which of the following prenatal diagnosis techniques is performed around the 15th week of gestation. - Preimplantation diagnosis - Polar body examination - Cordocentesis - Chorionic villus sampling - Amniocentesis ### Question 16 A male subject affected by a disease with autosomal dominant transmission is married to a normal woman. Indicate what is the risk (%) for this couple to have an affected child. - 5 - 50 - 100 - None of the numbers - 25 ### Question 17 When the same monofactorial disease is due to different mutations of the same gene, we are dealing with: - Genetic polymorphism - Allelic heterogeneity - Genetic heterogeneity - Aneuploidy - Heteroplasmy ### Question 18 The 45X karyotype corresponds to which of the following descriptions? - Male with Klinefelter syndrome - Turner syndrome - Autosomal trisomy - Triploidy of sex chromosomes - Aneuploidy of autosomes ### Question 19 Consanguinity between spouses is important for the risk of recurrence of: - Unbalanced chromosomal defects - Diseases with recessive inheritance - Diseases with dominant inheritance - Diseases due to mutations with incomplete penetrance - Balanced chromosomal defects ### Question 20 What type of inheritance is most likely present in the illustrated pedigree chart? - Autosomal dominant - X-linked recessive - Autosomal recessive - Y-linked - X-linked dominant