Johansson B, Mertens F, Palm L, Englesson I, Kristoffersson U
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Am J Med Genet. 1988 Apr;29(4):871-4. doi: 10.1002/ajmg.1320290418.
Duplication 18p was found in a 12-year-old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti-mongolian eye slant, low-set ears, and narrowly arched palate. These findings are compared with eight previously published cases.
在一名12岁女孩中发现了18号染色体短臂重复，其父亲携带涉及同一染色体片段的平衡易位，即t(18;21)(p11;p11)。我们的患者有语言发育迟缓、轻度精神运动发育迟缓、癫痫以及轻微异常，包括鼻梁低、眼裂呈反蒙古人种样、耳低位和腭弓狭窄。将这些发现与之前发表的8例病例进行了比较。
