Question

A 15-year-old patient is referred to the physician by a teacher who is concerned about the patient's Iearning abilities and behavior. The patients reading and writing skills are significantly impaired compared to other classmates, and the patient often misbehaves in class despite receiving numerous detentions. Neuropsychological assessment shows mild intelectual disability. Cytogenetic studies show a karyotype containing 47 chromosomes. Which of the following findings are most likely to be present on further evaluation?

A Arachnodactyly, scoliosis, aortic root dilation
B. Macroorchidism. large jaw and ears
C. Short stature, broad chest, amenorrhea
D. Short stature, hypotonia, obesity
E. Tall stature, gynecomastia, azoospermia

Answer 1

The patient, with a karyotype of 47 chromosomes, likely has Down syndrome, which is associated with short stature, hypotonia, obesity, and mild intellectual disability.

Step-by-step explanation:

The patient's karyotype displaying 47 chromosomes suggests a chromosomal abnormality, which is associated with physical features and mental characteristics distinctive to specific genetic conditions. Given the described symptoms, such as mild intellectual disability and additional chromosome, the best match would be a diagnosis of Down syndrome (trisomy 21). Individuals with Down syndrome typically exhibit symptoms such as short stature, hypotonia (low muscle tone), and obesity.

Therefore, the most likely symptoms to be found upon further evaluation from the given options would be Short stature, hypotonia, obesity. Some common features of Klinefelter syndrome include intellectual disability, vision problems, congenital heart disease, and susceptibility to cancer. Arguments are often made against abortion of an affected fetus.