Wieczorek Dagmar, Bartsch Oliver, Gillessen-Kaesbach Gabriele
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Am J Med Genet A. 2003 Jul 30;120A(3):429-33. doi: 10.1002/ajmg.a.20060.
We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present. Tentative clinical diagnoses during the 6-year follow-up included Down, Hennekam, and Noonan syndromes. Refinement of cytogenetic techniques, especially increase of banding resolution in conventional cytogenetic analysis, gave the clue to the correct diagnosis, which was proven by fluorescence in situ hybridization (FISH) with whole chromosome paints and single copy probes. We could show that he had an unbalanced translocation inherited from his father resulting in partial monosomy 18p and partial trisomy 20p. The combination of deletion 18p/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face.
我们描述了一名8.5岁男孩，其面部畸形包括圆脸、扁平脸、内眦距增宽、眶周饱满、短鼻、嘴角下垂和小颌畸形。此外，还存在严重智力发育迟缓、法洛四联症和肾发育不良。6年随访期间的初步临床诊断包括唐氏综合征、亨内坎综合征和努南综合征。细胞遗传学技术的改进，特别是传统细胞遗传学分析中带型分辨率的提高，为正确诊断提供了线索，这通过使用全染色体涂染和单拷贝探针的荧光原位杂交（FISH）得以证实。我们发现他继承了父亲的一条不平衡易位染色体，导致18p部分单体和20p部分三体。此前有三名患者报道过18p缺失/20p重复的组合，似乎具有临床可识别的面容。
