关键词: 　1p36缺失综合征；　矮小；　发育落后；　染色体微阵列分析技术

Abstract: Objective　To explore the clinical characteristics and growth pattern in patients with 1p36 deletion syndrome. Methods　Chromosomal microarray analysis (CMA) was used to detect genetic changes in two children with growth and developmental delay. Long-term follow-up of one subject was conducted to track the trend of height and weight change. Results Two subjects (one girl and one boy) were reported, both presenting characteristic face, obesity, short stature and intellectual disability (especially delay in language development). CMA identified 1p36.33-p36.32 deletion in both subjects. The girl harbors a 1757 kb heterozygous deletion, and the boy harbors a 2533 kb heterozygous deletion. Both were diagnosed as 1p36 deletion syndrome. Long-term follow-up on this subject from 7 years old and onwards revealed decelerated growth from 12 years old. Conclusions　1p36 deletion syndrome has varied clinical manifestations including typical facial characteristics, developmental delay, and other abnormalities. Females with this syndrome can present decelerated growth in middle adolescence, which eventually leads to short stature. CMA can facilitate the diagnosis of 1p36 deletion syndrome.

Key words: 1p36 deletion syndrome;　short stature;　developmental delay;　chromosomal microarray analysis