Multiple choice

Husband & wife present for counseling following three first trimester miscarriages. As part of their evaluation, both partners have chromosomal analysis. Husband is found to have the karyotype 46,XY,inv8(p13q23). What would you counsel them?

  1. This is a normal progeny likely of no significance.

  2. This is an abnormal chromosomal composition that would cause congenital anomalies if transmitted to a child.

  3. This rearrangement may lead to chromosomal imbalance in the offsprings and could explain multiple miscarriages in the female.

  4. This rearrangement may cause to dicentric or acentric chromosomes in the offsprings, which would probably not be appropriate with survival.
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.

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