Binkert F, Stranzinger J, Schinzel A
Institute of Medical Genetics, University of Zürich, Switzerland.
Hum Hered. 1990;40(2):81-4. doi: 10.1159/000153910.
A 1-year-old boy with trisomy 18 (pter----q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.
一名1岁患有18三体综合征（pter----q12）的男孩，其父亲存在平衡易位，该男孩表现为小头畸形、一系列轻微的畸形特征，包括上斜窄睑裂、前额后缩、大鼻子和下颌后缩、隐睾、手指屈曲挛缩、心脏畸形以及中度智力发育迟缓。虽然单纯的18p三体通常与接近正常的表型相关，但如我们的先证者所示，仅近端18号长臂一小段的额外三体对表型有明显的负面影响。
