Know how to identify and define chromosome mutations:

Deletion- mutation in which a section of DNA is lost, or deleted.

Deletion of centromere, results in an acentric chromosome;

Duplication- mutation in which a section of DNA is duplicated and both copies end up in
the same chromosomes. Can occur because of an error during the duplication process of
form an error during meiosis

Inversion-mutation in which a section of DNA is put in backwards.

Translocation: in which two non-homologous chromosomes exchange sections of DNA

Aneuploidy: when one or more chromosomes are either lost or added to the normal
set of chromosomes. Result of non-disjunction, either mitotic or meiotic

Polyploidy: 3 or more sets of chromosomes (can reproduce sexually and axesually )

Haploidy: Usually lethal because of the presence of recessive lethal mutations that will
act as dominant characteristics in the haploid state

Monoploidy: only one set of chromosomes

Diploidy: Normal: 2 sets of chromosomes

What is cytogenetics and how is it performed?

Cytogenetics: study of the structure and the function of chromosomes

Karyotype nomenclature: e.g. 46, XY (normal male);

46, XY del (7q) (male with deletion on long arm of chr. 7)

Types of duplication
– Tandem: adjacent
– Reverse tandem: adjacent and opposite orientation
– Terminal tandem: adjacent and at end of chromosome

One mechanism of duplication?

 – Pericentric inversion: inverted segment contains centromere

– Paracentric inversion: inverted segment occurs on only one arm of a

chromosome and does not span centromere

Intra-chromosomal: within a chromosome

Inter-chromosomal: between non-homologous chromosomes

Reciprocal (bidirectional exchange)

Non-reciprocal (unidirectional transfer)

Why is even number polyploidy more stable than odd number polyploidy?
The polyploidy organism with even number chromosomes can pair up during the time of
separation during meiosis and thus the gametes produced from the meiosis are
functional and that is why they are fertile. In case of odd number chromosome
organisms, the odd number can not pair during the meiosis and thus the gametes
produced from the meiosis are not functional and that is why they are generally sterile.

Why is monoploidy usually lethal?

– Usually lethal because of the presence of recessive lethal mutations that will act
as dominant characteristics in the haploid state

Why are human trisomies 13, 18 and 21 observed and not others?

Why is trisomy and tetrasomy of X chromosome tolerated?