Chapter 8 Flashcards
additional copies of a gene ___ cause cellular problems
sometimes
the spread of a complete metaphase chromosome set presented for diagnostic purposes is called a ___.
karyotype
failure to separate for homologous chromosomes or sister chromatids is referred to as ____.
nondisjunction
of all cases of primary Down syndrome, 92% is due to ____ of chromosome 21
trisomy
which statement about chromosome inversions is correct?
chromosome inversions flip a segment of a chromosome 180 degrees
which statement about aneuploidy is true?
one form of aneuploidy is a loss of both members of a homologous pair of chromosomes
which statement about down syndrome is true ?
trisomy of chromosome 21 is well tolerated enough to give rise to fully-developed individuals
during meiosis, erros occur durring chromosome replication
which term describes the rearranging of genetic material between non homologous chromosomes without a net loss or gain of genetic material
translocation
AB. CDEFG> AB. CFEDG
which type of inversion is presented ?
paracentric
which structure forms as a result of a crossover between two paired chromatids in which one chromatid has the normal gene order and the other has a paracentric inversion?
dicentric bridge
which term describes the process of sister chromatids not separating at the centromere during cell division?
nondisjunction
match the definitions to the appropriate terms that describe the number of chromosomes
haploid
monosomic
n=1
haploid: a single unpaired copy of each chromosome
monosomic: only one copy of a specific chromosome
n=1 : a genome composed of one unique chromosome
define euploidy
a complete chromosome set or an exact multiple of the haploid chromosome set
patient 367 karyotype missing an entire X chromosome also known as Turner syndrome (XO syndrome)
which form of aneuploidy is this?
monosomy
two brothers have X-linked red-green colorblind vision, and their parents have normal color vision. the first brothers karyotype is 47, XXY (Klinefelter syndrome) , and the second brothers karyotype is 46, XY
in which parent and in what cell division phase did the first brothers chromosomal nondisjunction occur? assume no recombination.
in the mother in meiosis II
red- green color blindness is a human X-linked recessive disorder. the normal allele XB is dominant to the mutant allele Xb. Jill has normal color vision, but her father is color blind. Jill marries tom who also has normal color vision. Jill and tom have a daughter who has Turner syndrome and is color blind.
how and from whom did the daughter inherit color blindness?
an ovum carrying Xb followed by fertilization by sperm from a paternal nondisjunction event
frank has Klinefelter syndrome (47, XXY). his mother has normal skin, but his father has anhidrotic ectodermal dysplasia, an x-linked condition where the skin does not contain sweat glands. frank has patches of normal skin without sweat glands.
frank received the mutant chromosome from his ___.
nondisjunction occurred in his ____ during the ____ meiotic division.
father
father
first
