Tharapel S A, Lewandowski R C, Tharapel A T, Wilroy R S
J Med Genet. 1986 Aug;23(4):310-5. doi: 10.1136/jmg.23.4.310.
Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent.
对已发表的62例13号染色体部分三体病例的临床和细胞遗传学结果分析表明，15例为近端长臂部分三体，47例为远端长臂三体。胎儿血红蛋白（Hb F）持续存在、多形核白细胞（PMN）突起增加、鼻梁凹陷、唇腭裂和手指弯曲在近端13号三体患者中更为常见。在远端三体组中，常见特征包括血管瘤、浓眉、长卷睫毛、鼻梁突出、人中长、上唇薄、腭弓高和多指畸形。此外，两组还有其他一些共同特征，即使同一节段三体时也常表现出不一致。鉴于62例中有42例来自平衡易位携带者父母，讨论了作为这种不一致和重叠表型最可能原因的第二次非整倍体的影响。
