Chapter 4 Self-test questions

. Childhood diseases with an autosomal recessive inheritance pattern typically demonstrates which of the following patterns:

A severe disease phenotype

Multiple affected generations

Greater severity in females

1:2 Recurrence risk

. Genetic anticipation is associated with which of the following phenomena:

Aneuploidy

Progressive Respiratory Failure

Worsening severity, and earlier age of onset with successive generations

. Which of the following aneuploidies are lethal?

45,X

47,XY+21

47,XXY

46,XX+16

. The following are true of Down Syndrome

Prenatal Diagnosis of aneuploidy is routinely offered to all pregnant women

Robertsonian translocations account for 4% of cases

Death in childhood is usual

Renal disease is a frequent complication

. Genetic Testing is unethical or inappropriate in the following situations

Testing a child for risk of Mitochondrial Disease

Taking blood for genetic tests in a terminally ill child

Testing the 11y-old sister of a boy with Duchenne Muscular Dystrophy to determine her carrier status

Genetic testing on an infant to determine suitability for bone marrow transplantation for a sibling

. A male patient, with mild symptoms of Marfan syndrome - caused by a mutation in the FBN1 gene has recently had a son. The probability that the son will have inherited the condition is one in two (50%).

True

False

. According to internationally standardised nomenclature, a miscarriage is represented as a diamond on a family history pedigree diagram.

True

False

. Haemophilia A and Haemophilia B are X-linked recessive disorders that usually only affect males.

True

False

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