Kivlin J D, Fineman R M, Williams M S
Am J Med Genet. 1985 Dec;22(4):769-79. doi: 10.1002/ajmg.1320220412.
Previous reports suggested the existence of a del(12p) syndrome. Phenotypic abnormalities associated with del(12p) appear to be mental retardation, microcephaly, and micrognathia. The patient with del(12p) reported here was normocephalic and large for gestational age. She probably had sclerocornea, a finding not previously associated with del(12p). Phenotypic variation in del(12p) syndrome is probably caused by differences in the size of the deleted segment and/or the presence or absence of mutant genes on the homologous 12p segment.
先前的报告提示存在12号染色体短臂缺失（del(12p)）综合征。与del(12p)相关的表型异常似乎是智力发育迟缓、小头畸形和小颌畸形。本文报告的这位del(12p)患者头型正常且大于孕周。她可能患有角膜硬化症，这一发现以前未与del(12p)相关联。del(12p)综合征的表型变异可能是由缺失片段大小的差异和/或同源12号染色体短臂上突变基因的有无导致的。
