5号染色体结构异常以短臂缺失较为常见,称为5P~-综合征,即猫叫综合征。约占新生儿的1/50,000。其次是5p三体。5号染色体长臂缺失很罕见。1980年在对本院收治的先天畸形患者进行细胞遗传学调查中,发现一例5号染色体长臂末端缺失(5q~-)报道如下。病例摘要患者孙某某,男性,5个月。患者属第二胎,足月顺产。其母在怀孕时无服药史及感染史。体检见有唇,腭裂畸形。此外未见其它体表畸形及发育落后征象。无贫血貌,无明显智力低下表现。心电图正常。拍摄胸腹 Chromosome structural abnormalities on the 5th to the short arm is more common, known as 5P ~ - syndrome, the cat called syndrome. About 1 / 50,000 of newborns. Followed by 5p trisomy. Long arm deletion on chromosome 5 is rare. In 1980 in our hospital for treatment of congenital malformations in patients with cytogenetics and found that a chromosome 5 long arm distal deletion (5q ~ -) reported as follows. Case summary Sun Moumou, male, 5 months. The patient is a second child, full-term delivery. The mother had no history of medication and infection during pregnancy. Have a physical examination lips, cleft palate deformity. In addition no other surface deformities and signs of development and backwardness. No anemia, no obvious mental retardation. Normal ECG. Shooting chest and abdomen