Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 13
   1. Question 1
   2. Question 2

Question 2

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Interpreting laboratory reports

Options:

1. 47,XXY
2. IVS2+3C→G
3. 47,XX,+21/46,XX
4. pV120M
5. 46,XX,del(4)(p16)
6. g.27→28insGG
7. 47,XYY

Select the correct laboratory report for the genetic abnormality described below.

1	Scenario 1   A female with Wolf-Hirschhorn syndrome Choose... 47,XXY IVS2+3C→G 47,XX,+21/46,XX pV120M 46,XX,del(4)(p16) g.27→28insGG 47,XYY Wolf-Hirschhorn syndrome is caused by a deletion in the short arm of chromosome 4. See Page 62 and 253.Incorrect. See Page 253.Your answer has been saved.

2

Scenario 2   A frameshift insertion Choose... 47,XXY IVS2+3C→G 47,XX,+21/46,XX pV120M 46,XX,del(4)(p16) g.27→28insGG 47,XYY This notation describes insertion of two Guanine nucleotides. Deletions or insertions, which are not a multiple of 3 will disturb the reading frame. See Page 11 and 254.Incorrect. See Page 11 and 254.Your answer has been saved.

3

Scenario 3   A point mutation in an intron Choose... 47,XXY IVS2+3C→G 47,XX,+21/46,XX pV120M 46,XX,del(4)(p16) g.27→28insGG 47,XYY IVS stands for intervening sequence, i.e. an intron. This notation describes a C to G point mutation at the third nucleotide of intron number 2. See Page 254.Incorrect. See Page 254.Your answer has been saved.

4

Scenario 4   A man with Klinefelter syndrome Choose... 47,XXY IVS2+3C→G 47,XX,+21/46,XX pV120M 46,XX,del(4)(p16) g.27→28insGG 47,XYY Males with Klinefelter syndrome usually have a 47,XXY karyotype. Males with a 47,XYY karyotype have a very different phenotype. See Page 60 and 253.Incorrect. See Page 60 and 253.Your answer has been saved.

5

Scenario 5   A female with Down syndrome mosaicism Choose... 47,XXY IVS2+3C→G 47,XX,+21/46,XX pV120M 46,XX,del(4)(p16) g.27→28insGG 47,XYY This individual has two cell lines, one normal and the other with an additional number 21 chromosome. Page 253.Incorrect. See Page 253.Your answer has been saved.