Turleau C, de Grouchy J
Clin Genet. 1981 Mar;19(3):202-6. doi: 10.1111/j.1399-0004.1981.tb00697.x.
A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
先前报道的一名6号染色体长臂远端三体患者经R显带分析显示为6q26qter三体，其母系核型为t(6;22)(q26;p12)。总共已报道9例6qter三体患者。6qter三体综合征的主要特征为：严重智力和生长发育迟缓；尖头畸形和短头畸形；鲤鱼嘴；小颌畸形；颈部极短且有异常的前部蹼状皮肤；关节挛缩；无严重内脏器官畸形；可存活至成年。
