Which syndrome is characterized by severe intellectual disability, seizures, and microbrachycephaly?

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!

The syndrome characterized by severe intellectual disability, seizures, and microbrachycephaly is 1p36 Deletion syndrome. This genetic condition is caused by the deletion of a portion of the short arm of chromosome 1 and is known for presenting with a variety of distinctive clinical features.

Individuals with 1p36 Deletion syndrome often exhibit significant developmental delays and intellectual disabilities, which can range from moderate to profound. Seizures are also a common complication among affected individuals, contributing to the need for careful neurological monitoring and management. Additionally, microbrachycephaly, which refers to a smaller-than-normal head with a broad shape, is a recognizable physical trait observed in many patients with this syndrome.

The other syndromes listed in the question have different hallmark features that do not align with the combination specified. For instance, Wolf-Hirschhorn syndrome can involve intellectual disability but is more prominently associated with specific facial features and growth delays, and does not primarily present with microbrachycephaly as a defining characteristic. Cri-du-chat syndrome is characterized by a distinctive high-pitched cry and has a different set of developmental and physical features. Williams syndrome is known for its unique personality traits and cardiovascular issues, rather than severe intellectual disability,

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