Gimelli G, Cuoco C, Lituania M, Cordone M, Aricò M, Bianchi E, Maraschio P, Zuffardi O
Am J Med Genet. 1985 Feb;20(2):341-8. doi: 10.1002/ajmg.1320200217.
We report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively. One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2----pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to conclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg [1983], we conclude that this anomaly appears to be a sign of the syndrome. The duplication usually derives from a maternal balanced translocation, in most cases from adjacent-1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.
我们分别报告了2例因母亲平衡易位t(3;6)(p23;q27)和t(2;3)(p25;p23)导致的3p远端重复的非相关病例。一个家系通过不平衡的子代被确诊，另一个家系通过对平衡携带者母亲的超声检查确诊。这些病例证实dup(3)(p2----pter)会导致一种具有独特面部外观的特征性综合征。在2号家系中，查看一张已故同胞的照片就足以得出他患病的结论。2号家系中的患者患有独眼畸形。由于Martin和Steinberg [1983]也报告了全前脑畸形，我们得出结论，这种异常似乎是该综合征的一个体征。这种重复通常源自母亲的平衡易位，大多数情况下来自邻位-1分离。然而，2号家系是通过一名从父亲那里遗传了易位的平衡女性携带者确诊的。我们注意到，这些易位中涉及的第二条染色体（其变化无明显偏好）始终在一个远端带处断裂。
