cytogenetic basics

Question 1

what q or p mean in cytogenetics?

Answer 1

The arm of the chromosome. Each chromosome is divided into two sections (arms) based on the location of a narrowing (constriction) called the centromere. By convention, the shorter arm is called p, and the longer arm is called q.

Question 2

cytopenias

Answer 2

Cytopenia means that you have low levels of red blood cells (anemia), white blood cells (leukopenia) or platelets (thrombocytopenia).

However, a cytopenia may not be accompanied by a known determinant and in some of these cases, may be a precursor to pre-malignancies or hematologic cancers.

Question 3

What are the different types of cytopenia?

Answer 3

Anemia describes low red blood cell levels. Anemia reduces the amount of oxygen your body receives.

Leukopenia describes low white blood cell levels.

neutropenia describes too few neutrophils

Thrombocytopenia describes low platelet levels.

Pancytopenia describes low levels of all blood cell types.

Question 4

What is an X-linked recessive disorder

Answer 4

males usually manifest the abnormality

females are carriers

Females may be symptomatic if they are homozygous or if inactivation of their normal X chromosome occurs.

Example:
hemophilia
color blindness
G6PD deficiency

Question 5

aneuploidy

Answer 5

The occurrence of one or more extra or missing chromosomes leading to an unbalanced chromosome complement, or any chromosome number that is not an exact multiple of the haploid number (which is 23)

Question 6

dysplasia

Answer 6

the presence of cells of an abnormal type within a tissue, which may signify a stage preceding the development of cancer.

Question 7

What is the meaning of index person?

Answer 7

The first person known to have a particular disease or other medical condition in a population, especially the first patient in an epidemic known to have contracted the infection.

The index patient did not immediately test positive, and consequently spread the virus for several days.

Question 8

What is pleomorphism in cancer?

Answer 8

Irregularities in both nuclear shape and size (‘pleomorphism’), coupled with changes in chromatin amount and distribution, remain the basic microscopic criteria for a cytologic diagnosis of cancer.