Wolf-Hirschhorn综合征(WHS)是一种罕见的染色体病,为4号染色体短臂p16.3缺失所导致的染色体缺失综合征。1965年Wolf等和Hirschhorn等首先报道,约90%源自新发生的突变,男女比为1∶2[1,2]。该病的主要临床表现是:具有特殊面容、生长发育障碍、智力低下、肌张力减退、癫痫、先心病、骨骼畸形等各种异常。本中心在对1例染色体正常的患儿进行微阵列比较基因组杂交 Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disease with chromosome-deficient syndrome caused by the deletion of p16.3 in the short arm of chromosome 4. In 1965, Wolf et al. And Hirschhorn et al. First reported that about 90% of the mutations originated from new mutations and the ratio of men to women was 1: 2 [1,2]. The main clinical manifestations of the disease are: with a special face, growth and development disorders, mental retardation, hypotonia, epilepsy, congenital heart disease, skeletal deformities and other abnormalities. The center of a normal chromosome in children with microarray comparative genomic hybridization