Which of the following is a chromosome breakage disorder?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Ataxia telangiectasia is indeed classified as a chromosome breakage disorder. This condition arises due to mutations in the ATM gene, which plays a crucial role in the detection and repair of DNA double-strand breaks. Individuals affected by ataxia telangiectasia exhibit a variety of symptoms, including progressive neurological issues, immune deficiencies, and an increased predisposition to certain cancers. The underlying mechanism of the disorder involves problems with the maintenance of genomic stability, which is characteristic of chromosome breakage syndromes.

This is an important distinction, as other options listed do not primarily relate to chromosome breakage. For instance, Beckwith-Wiedemann syndrome is primarily an overgrowth disorder linked to abnormal regulation of growth genes rather than a breakage phenomenon. Napolitan syndrome does not have a substantial association with chromosome breakage; rather, it involves various developmental abnormalities. Similarly, Loeys Dietz syndrome is primarily related to connective tissue and cardiovascular issues stemming from mutations in the TGFBR1 or TGFBR2 genes, rather than being a disorder characterized by chromosome breakage. Therefore, the classification of ataxia telangiectasia as a chromosome breakage disorder is correct and highlights its distinct genetic and clinical features.

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