A 13-year-old boy attends with his mother because his school has asked for a diagnosis. He has always been behind his peers and reads at a Year 3 level. He avoids eye contact, flaps his hands when excited and repeats phrases from television. He has a long narrow face with prominent ears, a high-arched palate and hyperextensible finger joints, and his testes are large for his age. Two of his mother's brothers attend a supported workplace. Which one of the following investigations is most likely to establish the underlying cause?
Shared by Mornienmiddle twist
Filed under paediatrics › congenital-and-inherited-disorders › general › rare-inherited-syndromes

Keep going with ten more like this one.

Practise more

More from Psychiatry

See all

A 34-year-old man who came to Australia from Somalia six years ago is reviewed by his general practitioner for a depressive episode. After eight weeks of sertra…

Pre-internship · niche

A 40-year-old man who came to Australia from Iraq as a refugee eight years ago attends a general practice with six months of broken sleep, nightmares and daily…

Clinical rotations · middle twist

A 71-year-old woman who migrated from Hong Kong 40 years ago is admitted to a psychiatric ward with a severe depressive episode. She speaks Cantonese and almost…

Pre-internship · middle twist

A metropolitan mental health service is examining why Aboriginal and Torres Strait Islander inpatients leave the ward against medical advice far more often than…

Clinical rotations · middle twist

A 52-year-old man born in Vietnam, who has had schizophrenia for 25 years, comes to an emergency department with six hours of epigastric pain. He speaks limited…

Pre-internship · niche