Contributed by James R. Davie, MD, PhD, and Stephanie Scruppi
Published on line in October 2000
A 4-year old Caucasian girl with history of chronic otitis media (15 cases in a three-year period) was evaluated for "short stature", evidenced by a gradual decrease in height percentile from 20% (at birth) to < 3 % (at 4 years of age). Physical exam was remarkable only for slight backward rotation of the ears and small mandible (micrognathia). Xray studies demonstrated delayed bone maturation. A cytogenetic analysis was ordered on peripheral blood leukocytes.
X-chromosome pairs from representatitive metaphase spreads: