Corona-Rivera J R, Corona-Rivera E, Bobadilla-Morales L, Garcia-Cobia T A, Corona-Rivera A
Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Jal., Mexico.
Genet Couns. 2002;13(1):19-22.
Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, and CP in case 1 and CP in case 2, though non-specific of TS, may not be fortuitous findings. The increased frequency of CP and bifid uvula in poly X syndromes, the dermatoglyphic similarities between iXq TS and X polysomies, and the occurrence of Klinefelter phenotype when extra Xq material is present in a male, are all indirect evidences suggesting that Xq material cannot be considered phenotipically inert and facial clefts found in our patients may be syndromal manifestation of trisomic Xq dosage.
唇裂（CL）和/或腭裂（CP）在特纳综合征（TS）系列中是罕见的异常情况。我们报告了两名无关的散发性46,X,i(Xq)患者，他们表现出口腔面部裂隙和一种特殊的面部外观，掩盖了临床诊断。病例1中的CL和CP以及病例2中的CP，虽然不是TS所特有的，但可能并非偶然发现。多X综合征中CP和双裂悬雍垂的频率增加、iXq TS与X多体性之间的皮纹相似性，以及男性存在额外Xq物质时出现克兰费尔特表型，这些都是间接证据，表明Xq物质不能被认为在表型上是无活性的，我们患者中发现的面部裂隙可能是Xq三体剂量的综合征表现。
