Turleau C, de Grouchy J, Bouveret J P
Clin Genet. 1979 Jul;16(1):54-7. doi: 10.1111/j.1399-0004.1979.tb00849.x.
A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low-set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.
一名3岁男性患者因父亲的t(5;17)(p151;q231)导致17q231qter三体，与文献中报道的另外三名因家族性t(17;21)(q23;q22)导致同一节段三体的患者进行比较。这四名患者共有的特征是：严重智力迟钝；侏儒症；前额突出和颞部凹陷；窄而斜视的眼睛；薄唇，上唇覆盖下唇；耳位极低且异常；腭裂；以及韧带过度松弛。因此，似乎有可能描绘出一种新的细胞遗传学综合征。
