Multiple choice

A couple gone for counseling following first trimester miscarriages. As part of their evaluation, both the parents had chromosomal analysis. The father is found to have the karyotype 46, XY, inv8(p13q23). What interpretation is drawn?

  1. This is a normal variant, likely of no significance.

  2. This is an abnormal chromosome that would cause congenital anomalies if transmitted to the developing foetus.

  3. This rearrangement might cause chromosomal imbalance in developing foetus and could explain multiple miscarriages.

  4. This rearrangement might cause dicentric or acentric chromosomes in developing foetus, which would probably not be compatible with survival of the developing foetus.

Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

This is a pericentric inversion. Crossing over within the inversion loop would lead to duplication and deficiency of parts of chromosome 8, which might cause congenital anomalies.