Principles of Genetic Inheritance

Question 1

Cells from a patient have different genotypes (and karyotypes); can be Downs, Klinefelter, or Turner syndromes

Answer 1

Mosaicism

Question 2

Exchange of material between two non homologous chromosomes (Philadelphia 9:22)

Answer 2

Reciprocal Translocation

Question 3

Long arm (q) of two acrocentric chromosomes is combined; usually loss of short arm (p)

Answer 3

Robertsonian Translocation

Question 4

Silencing of one allele for a gene via methylation of the 5’ region

Answer 4

Genomic Imprinting

Question 5

Two chromosomes inherited from the same parent, leading to parent specific imprinting (no gene product)

Answer 5

Uniparental Disomy

Question 6

Duchenne’s Muscular Dystrophy

Answer 6

X linked recessive

Question 7

Hypophosphatemia

Answer 7

X linked dominant; low phosphate in blood due to abnormal reabsorption; rickets; supplement with vitamin D and phosphate

Question 8

Single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci (Osteogenesis Imperfecta at 7 and 17)

Answer 8

Locus Heterogenicity

Question 9

How does meiosis create genetic diversity?

Answer 9

Random segregation of homologs and Crossing over (homologous recombination)

Question 10

chromosomes fail to separate normally during meiosis

Answer 10

Non-disjunction