Francke U, Jones K L
Am J Dis Child. 1976 Nov;130(11):1244-9. doi: 10.1001/archpedi.1976.02120120078014.
Strikingly similar abnormalities were present in two severely retarded children, an 8-year-old boy and a 12-year-old girl, who were first cousins once removed. Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia, and overconstriction of the shafts of all long bones. Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation prestne in both mothers: der (2), t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified in four generations of this kindred.
两个智力严重发育迟缓的孩子，一个8岁男孩和一个12岁女孩，他们是隔了一代的堂表亲，身上出现了惊人相似的异常情况。畸形特征包括高额前凸且额发上翘、扁平宽阔的眉间和鼻梁、上颌发育不全、上睑下垂、泪管狭窄、四肢细长、手指过度伸展且近端指间关节半脱位、外生殖器发育不全以及所有长骨干过度狭窄。两名患者的核型均不平衡，2号染色体短臂远端三分之一重复，这是由于两位母亲均存在相同的平衡相互易位：der (2), t(2;7)(p23;q36)mat。在这个家族的四代人中还鉴定出另外7名易位携带者。
