Approach to Genetic Diagnosis

Question 1

What is the age that infants start to roll over? When do they sit unassited?

Answer 1

Roll over: 3-4 months
Sitting unassisted: 6 months

Question 2

What is the age that infants start to crawl? Walk unassisted?

Answer 2

Crawl: 9 months
Walking: 1 year

Question 3

When does a child say their first word? Put two words together?

Answer 3

First word: 1 year
Two words together: 2 years

Question 4

You are seeing a 15 year-old autistic male with hypermobility, tall stature, macrocephaly, and penile freckling. What testing do you order?

Answer 4

PTEN gene mutations cause Cowden Syndrome. Ultrasound of thyroid (3-10% thyroid carcinoma). Colon, kidney and breast screening in early-mid adulthood.