MS-1748

A 9-month-old baby boy is presented to the GP clinic by his mother who recently moved to the UK. The mother is worried about her son’s physical appearance, which she believes is different from other children in his daycare center.

During the examination, the baby appears healthy, but the doctor observes a shortened neck and a protruding tongue. Additionally, there are several white spots visible in the iris.

What is the most frequent cytogenetic cause of this patient’s condition?