Department Of
Chromosomal Disorder Pregnancy

What Are Chromosomal defects?

Chromosomal irregularities are chromosomal variations that can occur throughout growth. They might be “de novo” (fetus-specific) or acquired from a mother or father. Irregularities are classified into two types: numerical as well as structural.

• Numerical Abnormalities: The term numerical relates to the concept when there are fewer chromosomes than predicted, there might be greater or fewer. It is generally known as aneuploidy. Every case has its term:
  • Trisomy- Chromosomes determine all of it, from our eyes and hair color to certain illnesses we are prone to when we develop. We, individuals, possess 23 sets of chromosomes within our DNA. Trisomy seems to be a biological condition where an individual has three duplicates of a chromosome rather than the usual two.
  • Monosomy- Aneuploidy is indeed a form of monosomy. All chromosome pairs do not produce viable embryos when one of its chromosomes is absent at the time of development. The sexual chromosomes are an alternative to this concept. The X chromosome conducts most tasks by itself among men, while the Y chromosome contains few active genes.
• Structural Abnormalities: A structural irregularity occurs whenever the chromosome’s composition causes a problem. Structural irregularities can develop in a variety of ways:
  • Translocation- A chromosomal fragment gets moved to the other. (This might be the Robertsonian rearrangement, where a chromosome connects to the other, or a reciprocal translocation, in which two chromosomes get exchanged.)
  • Duplication- A chromosome gets duplicated, bringing to more genetic material.
  • Deletion- A chromosomal segment has been removed or is lacking.
  • Inversion– A chromosomal fragment splits off and flips upside down before reattaching to the main structure.
  • Ring- A circle or loop forms when a piece of one chromosome rips off.