Find in Library

Interstitial chromosome 20q deletions, containing GNAS imprinted locus, are rarely reported in the past. Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial appearance and mild intellectual abnormality. With 3 years’ growth hormone treatment, his height was increased from 90 to 113.5 cm. This report is the first time to describe the outcome of clinical treatment on a patient with this rare chromosomal 20 long arm interstitial deletion, containing GNAS locus, which may facilitate the diagnosis and treatment of this type of patient in the future.