本文报道在日本首次发现的9号染色体长臂缺失(9)del(q12q22)。对患儿从出生到8岁时进行随访,监视其生长发育,并将本例同国外各国文献报道的病例进行比较。患儿生后开始,即因身体软弱而伴有哺乳困难,生后3日心脏出现杂音,12个月时诊断为室中隔缺损症,外表畸形,主要为两眼间距宽,鞍形鼻,脐疝,在精神发育方 This paper reports the deletion of the long arm of chromosome 9 (9) del (q12q22), which was first found in Japan. The children were followed up from birth to 8 years old to monitor their growth and development. The cases were compared with those reported in foreign countries. Children born after birth, that is, due to weakness and breastfeeding with the body, 3 days after birth heart murmur, 12 months when diagnosed as ventricular septal defect, the appearance of deformity, mainly for the two wide-spaced, saddle-shaped nose, Umbilical hernia, in the spiritual development side