Genetics (Week 4) Flashcards
of chromosomes in a normal human?
46 individual or 23 pairs
of autosomes?
22 pairs
of allsomes?
1 pair (#23)
The units of heredity?
genes
4 proteins that make up genes?
adenine (A)
guanine (G)
thymine (T)
cytosine (C)
Down syndrome is an example of what kind of genetic disorder?
Addition of an entire chromosome
Turner’s syndrome is an example of what kind of genetic disorder?
Deletion of an entire chromosome
Tay Sachs is an example of what kind of genetic disorder??
autosomal recessive
Duchenne is an example of what kind of genetic disorder??
x-linked
Mitochondrial disorders are examples of what kind of genetic disorder?
x-linked
Williams syndrome is an example of what kind of genetic disorder?
micro deletion of multiple genes within a chromosome
3 types of down syndrome?
- trisomy
- translocation
- mosaicism
What is Mosaicism?
mild form of down syndrome; only on some chromosomes
What is translocation?
a form of down syndrome in which a portion of chromosome 21 breaks off and goes elsewhere
What differentiates turner’s syndromes?
only in females
This syndrome occurs when there is only 1 copy of sex chromosomes?
Turners syndrome
short stature, broad chest, webbed neck, low hairline, extra skin at the nape of the neck, and shortening of the 4th and 5th metacarpals are all characteristic of?
Turner’s syndrome
Cubital valgus position is commonly seen in?
Turner’s syndrome
True or False: hearing problems are commonly seen in turners syndrome?
True
Cri-du-chat syndrome is a common example of what kind of genetic disorder?
a partial chromosomal deletion of chromosome 5
a high pitched cat cry is commonly seen in?
cri-du-chat
Microcephaly/micrognathia, wide slanted eyes, low set eyes, simian hands, and hypotonia are all characteristic of what genetic disorder?
Cri-du-chat
What genetic disorder comes from a micro-deletion of chromosome 7?
William’s syndrome
What genetic disorder is characterized by full lips and cheeks, small chin, star like pattern in the iris, and colic/irritable?
Williams syndrome
What genetic disorder is characterized by an extremely friendly and talkative demeanor but extremely sensitive (both in personality and hearing) as well?
Williams syndrome
What genetic disorder is characterized by hypercalcemia?
Williams syndrome