Which feature is typically observed in Beckwith-Wiedemann Syndrome?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Beckwith-Wiedemann Syndrome (BWS) is characterized by a variety of clinical features, one of the most notable being body asymmetry. This condition is a growth disorder that often leads to overgrowth in various parts of the body and can result in a noticeable difference in size or shape between the sides of the body. This asymmetry is linked to abnormal regulation of genetic expression, particularly in imprinted genes on chromosome 11.

Though other features, such as short stature, neonatal hypotonia, and behavioral issues may occur in other conditions or even in certain individuals with BWS, they are not defining characteristics of the syndrome. For example, short stature is not a common hallmark, as BWS is typically associated with increased growth. Neonatal hypotonia can be present but is not specific to BWS and often occurs in a variety of genetic and non-genetic conditions. Behavioral issues, while they may develop in some individuals, are also not a core feature of the syndrome.

In summary, body asymmetry is distinctly recognized in Beckwith-Wiedemann Syndrome as a prominent clinical presentation and is important for diagnosis and understanding the condition's implications.

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