Biology Questions and Answers

Biology Questions and Answers

Karyotype and

Genetic Diseases

1. What is karyotype?

The name karyotypof chromosomes of an individual,e is given to the set
usually when visualized and identified
under the microscopgenerally is made with the. The visualizatione cells in the
initial phases of cell division for the
chromosomes to replicated and condensed.be seen already

2. Which type of genetic
   disease can be identified from
   the visual analysis of the
   number of chromosomes
   present in a karyotype?

The countinchromosomes ig and identificationn the karyotype ofof an (^)
individual can diagnose the
aneuploidies, diseases causealteration in the number of d by
chromosomes in relation to the normal
number of the species.

3. Why in the preparation of a
   karyotype analysis is the use
   of a substance like colchicine
   interesting?

Colchicine is a substance that disallows
the formation oof the spindle fibers in cf microtuell division.bules and thus

Under the action of this drug the cells

interrupt division at manaphase does not occur. Tetaphase herefore theand the (^)
use of colchicine in the study of
karyotypchromosomes will bes is interesting be seen replicatedecause (^)
and condensed.

4. What is the karyotype
   found in Down syndrome?
   Down syndrome is an aneuploidy, i.e., a

numeric alteratiowithin the cells compared to the normaln of chromosomes (^)
number of chromosomes of the species.
Affected individuals havan additional chromosome 21 e in their cellsinstead (^) of
only one pair. For this reason the
condition is also called affected person has karyotyptrisomye with 47 21. The
chromosomes: 45 + XY or 45 + XX.

5. What is aneuploidy? What
   are the conditions caused by
   the aneuploidies?
   Aneuploidy is an abnormal number of
   chromosomes iindividual. n the cells of an

The main aspecies and their respective conneuploidies of the humanditions (^)
are: the nullisomies (absence of any
chromosome incompatible with pair of the species, oftenlife); the monosomies (^)
(absence of a chromosome from a pair,
for example, X); the trisomies (aTurner’s syndn extrarome, 44 +
chromosome, syndrome, 44 + for examplXXX, or the Edwardse, the triple X
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