Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 3
   1. Question 1
   2. Question 2

Question 1

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: Chromosome abnormalities

Options:

1. Trisomy 13
2. Trisomy 16
3. Trisomy 18
4. Trisomy 21
5. Klinefelter syndrome
6. Turner syndrome
7. Trisomy X syndrome
8. 47,XYY syndrome

The patients below all have a chromosome abnormality. Choose the most appropriate diagnosis from the options.

1

Scenario 1   A healthy 24 year old man who presents with a two year history of involuntary infertility Choose... Trisomy 13 Trisomy 16 Trisomy 18 Trisomy 21 Klinefelter syndrome Turner syndrome Trisomy X syndrome 47,XYY syndrome Men with Klinefelter syndrome, which is usually caused by a 47,XXY karyotype, are generally healthy and often do not present until adult life because of infertility, which is associated with the presence of small testes. See Page 60.Incorrect. See Page 60.Your answer has been saved.

2

Scenario 2   A baby with multiple abnormalities including cleft lip and palate, polydactyly, and a loud heart murmur Choose... Trisomy 13 Trisomy 16 Trisomy 18 Trisomy 21 Klinefelter syndrome Turner syndrome Trisomy X syndrome 47,XYY syndrome Almost all babies with trisomy 13 (Patau syndrome) have severe congenital malformations including cleft lip/palate, holoprosencephaly, scalp defects and genital abnormalities. 90% have cardiac abnormalities. See Page 56.Incorrect. See Page 56.Your answer has been saved.

3

Scenario 3   A six year old girl with short stature. In infancy she underwent surgery for correction of coarctation of the aorta Choose... Trisomy 13 Trisomy 16 Trisomy 18 Trisomy 21 Klinefelter syndrome Turner syndrome Trisomy X syndrome 47,XYY syndrome Females with Turner syndrome can present at birth with oedema, in childhood with short stature, or in adult life with amenorrhoea. See Page 59.Incorrect. See Page 59.Your answer has been saved.

4

Scenario 4   A one month old infant with hypotonia, single palmar creases and a heart murmur Choose... Trisomy 13 Trisomy 16 Trisomy 18 Trisomy 21 Klinefelter syndrome Turner syndrome Trisomy X syndrome 47,XYY syndrome Most babies with Down syndrome are diagnosed soon after birth, but occasionally the diagnosis is not suspected until later. Infants with Down syndrome are usually floppy and tend to be sleepy and undemanding. See Page 54.Incorrect. See Page 54.Your answer has been saved.

5

Scenario 5   A healthy 28 year old woman investigated because of recurrent miscarriage Choose... Trisomy 13 Trisomy 16 Trisomy 18 Trisomy 21 Klinefelter syndrome Turner syndrome Trisomy X syndrome 47,XYY syndrome Of the chromosome abnormalities listed above, this is the only one which would be consistent with fertility in a clinically healthy woman. A 47,XXX karyotype usually causes no medical problems, and although reduced fertility has been reported, this may be a coincidental finding. Often, as in this case, the diagnosis is made when chromosome analysis is undertaken for another purpose. See Page 61.Incorrect. See Page 61.Your answer has been saved.