Lecture Flash Cards - Content

Question 1

What type of mutation results in spontaneous abortions?

Answer 1

chromosomal aberration

Question 2

What is the most common trisomy?

Answer 2

down syndrome, trisomy 21

Question 3

What are the effects of trisomy 21 on the body?

Answer 3

cardiac defects, intestinal malformations, vision abnormalities, hearing loss, resp infect, memory loss

Question 4

What is Klinefelter syndrome?

Answer 4

XXY

Question 5

What is the most common genetic abnormality associated with primary hypogonadism?

Answer 5

Klinefelter syndrome XXY

Question 6

What is turner syndrome?

Answer 6

XO

Question 7

What inheritance pattern is when a mutation in a single allele of autosome is enough to cause disease phenotype?

Answer 7

Autosomal Dominant

Question 8

What pattern is seen for autosomal dominant in a pedigree?

Answer 8

vertical, equal distrib btw male and females, 50% shot of having it

Question 9

What are some autosomal dominant diseases?

Answer 9

Huntingtons, hypercholesterolemia, neurofibromatosis type 1, polycystic kidney disease

Question 10

What inheritance pattern requires two copies of the allele of autosome to manifest abnormal phenotype?

Answer 10

Autosomal Recessive

Question 11

What are some autosomal recessive diseases?

Answer 11

PKU, sickle cell anemia, cystic fibrosis, thalassemia

Question 12

What gene mutation causes CF?

Answer 12

CTFR

Question 13

What is FISH used for?

Answer 13

identifying where gene falls on chromosome

Question 14

Who supplies the disease if it follows mitochondrial mutations?

Answer 14

MOM

Question 15

What are some effects of a mitochondrial mutation?

Answer 15

cyclic vomiting, myoclonic epilepsy, nonsyndromic deafness, leigh syndrome