QuestionSBA
QuestionChoice
This karyotype represents Triple X syndrome, a genetic condition in females characterised by an extra X chromosome. It is associated with mild developmental and learning difficulties but does not typically manifest with the specific features described in this vignette.
10025436
b
47, XXX
QuestionChoice
This karyotype represents Klinefelter syndrome, which typically presents in males with features such as tall stature, gynaecomastia, delayed puberty, and often infertility. This patient is female and does demonstrate these clinical features.
10025437
c
47, XXY
QuestionChoice
This karyotype represents Tetrasomy X. It is not typically associated with distinctive physical features, although some individuals with XXXX Syndrome may have a taller stature than average for their age, as opposed to the short stature in this vignette. Subtle learning and behavioural differences are sometimes seen.
10025439
e
48, XXXX
QuestionChoice
This is the correct answer. Turner syndrome is a genetic condition that typically occurs in females and is characterised by the partial or complete absence of one X chromosome. The clinical features mentioned, including short stature, webbed neck (known as 'pterygium colli'), delayed puberty, high-arched palate, and widely spaced nipples, are consistent with Turner syndrome. While some individuals with Turner syndrome may have congenital heart defects, the absence of such defects in this patient does not rule out the diagnosis.
10025435
a
45, XO
QuestionChoice
This karyotype represents Down syndrome. Down syndrome is characterised by distinctive facial features, intellectual disability, speech delays, and an increased risk of congenital heart defects. Although also associated with short stature, the other symptoms described in this vignette such as a high-arched palate and widely spaced nipples are more suggestive of Turner syndrome.
10025438
d
47, XX, +21
Concept
Chapter
2693
5841
Turner's syndrome
Topic
153
Paediatrics
17485
A 17 year old female attends her GP surgery for a review of her thyroid medication. She is noted to have a short stature, webbed neck, and delayed puberty.

Examination reveals a high-arched palate and widely spaced nipples. There is no evidence of any congenital heart defects.

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