AUTHOR=Liu Yu , Yang Ying , Chu Liming , Ren Shuai , Li Ying , Gao Aimin , Wen Jing , Deng Wanling , Lu Yan , Kong Lingyin , Liang Bo , Shao Xiaoshan 

TITLE=Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.859185

DOI=10.3389/fgene.2022.859185

ISSN=1664-8021

ABSTRACT=<p>Interstitial chromosome 20q deletions, containing <italic>GNAS</italic> 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 <italic>GNAS</italic> locus, which may facilitate the diagnosis and treatment of this type of patient in the future.</p>