Question

Diagnosis: Broad, square face, short stature, self-injurious behavior. Allelic anomaly?

Answer 1

Cri-du-chat syndrome is the likely diagnosis based on the description of the phenotype.

Step-by-step explanation:

The phenotype described in the question, including a broad, square face, short stature, and self-injurious behavior, is associated with Cri-du-chat syndrome. This syndrome is caused by a chromosomal anomaly known as a deletion on chromosome 5.

Specifically, a portion of the short arm of chromosome 5 is missing, resulting in the characteristic features and symptoms observed in individuals with Cri-du-chat syndrome.

This anomaly is an example of a chromosomal structural rearrangement and is not related to any specific gene mutation.