HUMAN GENETICS
AND GENOMICS

Fourth Edition

Bruce R. Korf and Mira B. Irons

HUMAN GENETICS AND GENOMICS

Multiple Choice Questions

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Chapter 9: Question 1

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  1. A couple present for counseling following three first-trimester miscarriages. As part of their evaluation, both partners have chromosomal analysis. The man is found to have the karyotype 46,XY,inv8(p13q23). Which one of the following would you counsel them?

A This is a normal variant, likely of no significance.
B This is an abnormal chromosome that would cause congenital anomalies if transmitted to a child.
C This rearrangement might lead to chromosomal imbalance in an offspring and could explain multiple miscarriages.
D This rearrangement might cause dicentric or acentric chromosomes in an offspring, which would probably not be compatible with survival.