Lorda-Sánchez I, Villa A, Urioste M, Bernal E, Jaso E, García A, Martínez-Frías M L
Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Am J Med Genet. 1997 Feb 11;68(4):481-4.
We present a case of mosaic 5p tetrasomy. The mosaicism 46,XX/47,XX,+i(5p) was found at different ratios in blood lymphocytes, skin fibroblasts, and chondrocytes. The origin of the extra isochromosome was confirmed by FISH. The clinical picture corresponds to that described in trisomy 5p patients, although it was more severe than the two previously reported cases of mosaic 5p tetrasomy. No correlation between clinical severity and proportion of tetrasomic cells in blood or fibroblasts was found in these cases.
我们报告一例5p四体镶嵌病例。在血液淋巴细胞、皮肤成纤维细胞和软骨细胞中发现了46,XX/47,XX,+i(5p)不同比例的镶嵌现象。通过荧光原位杂交（FISH）证实了额外等臂染色体的来源。临床症状与5p三体患者所描述的相符，尽管比之前报道的两例5p四体镶嵌病例更为严重。在这些病例中，未发现临床严重程度与血液或成纤维细胞中四体细胞比例之间存在相关性。
