QuestionSBA
QuestionChoice
This is incorrect. This is the karyotype for Jacob's Syndrome. This is also characterised by a male genotype and tall stature. However, Jacob's syndrome is also associated with aggression and a predisposition to mental illness.
10027592
b
XYY
QuestionChoice
This is correct. Klinefelter syndrome is not an inherited condition and it occurs spontaneously. The phenotype is male with a tall stature, gynaecomastia, small testes and a feminine fat distribution. In Klinefelter syndrome, one of the X chromosomes is inactivated, becoming a 'Barr body'. These patients can also present with hypogonadotropic hypogonadism and high urinary gonadotropins.
10027591
a
47 XXY
QuestionChoice
This is incorrect. Individuals with triple X syndrome are generally phenotypically female.
10027595
e
47 XXX
QuestionChoice
This is incorrect. This is the karyotype for Turner's syndrome, which is characterised by the loss of an X chromosome. This is also a sporadic genetic condition but presents with a female phenotype.
10027594
d
45 XO
QuestionChoice
This is incorrect. Fragile X syndrome is an inherited condition presenting with features such as a long face, large protruding ears, intellectual impairment and post-pubertal macroorchidism (large testes).
10027593
c
Fra (X)
Concept
Chapter
2693
5842
Klinefelter syndrome
Topic
156
Medical Genetics
17916
An 18 year old male attends his GP surgery with concerns about his body image. He has not got any pubic hair and is self-conscious because he has a large amount of breast tissue compared with his other male friends.

On examination, the patient is tall and lean with wide hips. The GP notes small testes.

Which of the following is the most likely karyotype of this patient?
a