Wilson G N, Raj A, Baker D
Am J Med Genet. 1985 Feb;20(2):277-82. doi: 10.1002/ajmg.1320200211.
A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9p21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.
将一名9号染色体短臂末端至q22区段三体的新患者与先前报道的19例9号染色体部分三体病例进行比较。对于三体区段从9p21延伸至9q13的患者，小头畸形、鼻根突出、鼻头球状及嘴角下垂等表现较为常见，而三体区段延伸至9q22 - 9q32时，宫内生长迟缓、唇腭裂、骨骼异常及心脏缺陷则更为常见。一种图示方法展示了随着重复染色体区域从9p21带延伸至9q32带，9号染色体部分三体畸形谱的这种进展情况。在9号染色体完全三体或9号染色体短臂四体时观察到更严重且随机的缺陷，这表明极大过量的遗传物质会显著增加发育变异性。
