Select the FALSE combination of chromosomal pattern and the syndrome:
**Core Concept**
Chromosomal abnormalities can lead to various genetic syndromes, each with distinct clinical features and phenotypic expressions. These syndromes can result from numerical or structural abnormalities of chromosomes, including deletions, duplications, and translocations.
**Why the Correct Answer is Right**
To determine the correct answer, we need to evaluate each option based on its chromosomal pattern and the associated syndrome. Each option should be examined for its accuracy in matching the chromosomal abnormality with the corresponding syndrome.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is a common combination, where the presence of an extra X chromosome (47,XXY) leads to Klinefelter syndrome, a condition characterized by hypogonadism, infertility, and developmental delays.
**Option B:** This option is also correct, as the deletion of part of chromosome 22 (22q11.2 deletion syndrome) is associated with DiGeorge syndrome, a condition that affects the development of the thymus, parathyroid glands, and heart.
**Option C:** This option is correct as well, where the extra copy of chromosome 21 (trisomy 21) leads to Down syndrome, a condition characterized by intellectual disability, delayed speech, and distinctive facial features.
**Option D:** This option is incorrect, as the deletion of part of chromosome 5 (5p deletion syndrome) is associated with Cri-du-chat syndrome, not Turner syndrome. Turner syndrome is characterized by the presence of one X chromosome (45,X), whereas Cri-du-chat syndrome is caused by a deletion of part of chromosome 5.
**Clinical Pearl / High-Yield Fact**
When evaluating chromosomal abnormalities, it's essential to remember that each syndrome has distinct clinical features and phenotypic expressions. A thorough understanding of the chromosomal patterns and their corresponding syndromes is crucial for accurate diagnosis and management.
**Correct Answer: D. Turner syndrome is caused by the absence of one X chromosome (45,X), not the deletion of part of chromosome 5 (Cri-du-chat syndrome).**