All of us are made up of cells, in the nucleus of each cell are thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times along with proteins. The study of these chromosomes is called Cytogenetics.
In humans the normal cell nucleus contains 46 chromosomes, these are made up of 22 pairs of autosomes and a single pair of sex chromosomes (allosomes) – One member of each of these pairs is given by one parent.
Sex chromosomes are similar in a female i.e. XX and different in the male i.e. XY.

Normal Male Karyotype (46, XY)

Normal Female Karyotype (46, XX)
- Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, short arm or “p arm” and the long arm or the “q arm.” Based on the size and centromeric position the chromosomes are arranged into groups in a karyotype.
- Changes in chromosome number or structures are associated with genetic anomalies.

47,XY+ Marker Chromosome
Aneuploidy

46 XX t(5;12)(q22;q24)
Balanced Translocation