Baroncini A, Avellini C, Neri C, Forabosco A
Chair of Histology and General Embryology, University of Modena, Italy.
Am J Med Genet. 1990 Jul;36(3):358-60. doi: 10.1002/ajmg.1320360324.
A stillborn female with a "de novo" deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.
本文描述了一名患有12p13带“新发”缺失的死产女婴。其主要临床表现为宫内生长迟缓、单侧唇裂、舌头突出以及耳朵小、位置低且向后成角。将该病例与之前报道的4例孤立性远端12p缺失患者进行比较，未发现明显的共同表型特征。
