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6q部分重复或部分三体有特殊的临床表现。自从de Grouchy等人(1969)首先报告1例以来,已另有19例报告。总的临床表现一致;有不一致的体征可能是因为第6号染色体重复片段的长度不同,或者易位的另一个染色体缺失的片段不同。本文报告一例男婴,孕期及分娩基本正常,出生时发现多发性先天畸形:尖头、小头、睑裂向下斜、内眦远距、小颌、前颈蹼、短颈、鲤鱼形嘴、关节挛缩、畸形足。心脏检查有3～4级收缩期杂音。回声心动图显示严重
6q part of the repeat or part of the trisomy has a special clinical manifestations. Since de Grouchy et al. (1969) first reported one case, another 19 cases have been reported. The overall clinical manifestations are consistent; signs of disagreement may be due to differences in the length of chromosome 6 repeat fragments or the absence of another chromosome in the translocation. This article reports a case of baby boy, pregnancy and childbirth is basically normal, multiple congenital malformations were found at birth: pointed, small head, palpebral fissure down oblique, infraoriodal distance, small jaw, anterior webbed, short neck, carp shaped mouth , Joint contracture, deformity foot. Cardiac examination has 3 to 4 systolic murmur. Echocardiogram shows serious