chromosomal_syndromes_flashcards

Question 1

What is the chromosomal anomaly in Patau syndrome?

Answer 1

Trisomy 13.

Question 2

What is the chromosomal anomaly in Edward’s syndrome?

Answer 2

Trisomy 18.

Question 3

What is the chromosomal anomaly in Fragile X syndrome?

Answer 3

Fragile X mutation.

Question 4

What is the chromosomal anomaly in Noonan syndrome?

Answer 4

Genetic mutation (often PTPN11).

Question 5

What is the chromosomal anomaly in Pierre-Robin syndrome?

Answer 5

Genetic mutation (various causes).

Question 6

What is the chromosomal anomaly in Prader-Willi syndrome?

Answer 6

Genetic mutation (15q11-q13 deletion).

Question 7

What is the chromosomal anomaly in William’s syndrome?

Answer 7

7q11 deletion.

Question 8

What is the chromosomal anomaly in Cri du Chat syndrome?

Answer 8

5p deletion.

Question 9

What is the chromosomal anomaly in Turner syndrome?

Answer 9

45, X (Monosomy X).

Question 10

What is the chromosomal anomaly in Klinefelter syndrome?

Answer 10

47, XXY.

Question 11

What is the chromosomal anomaly in DiGeorge syndrome?

Answer 11

22q11.2 microdeletion.

Question 12

What is the general management approach for chromosomal childhood syndromes?

Answer 12

Most require an MDT approach.

Question 13

What is the disclaimer regarding the management plans in Sofia?

Answer 13

Although these syndromes are in Sofia, specific management plans are beyond the scope of this guide.