一种新的与多种骨骼异常、先天性心脏病和智力发育迟缓相关的48，XXYY/47，XYY综合征。

Mutesa Leon, Jamar Mauricette, Hellin Anne Cecile, Pierquin Genevieve, Bours Vincent

Laboratory of Medical Genetics, Faculty of Medicine, National University of Rwanda, Rwanda, East Africa ; Center for Human Genetics, CHU Sart-Tilman, University of Liege, 4000 Liege, Belgium.

Indian J Hum Genet. 2012 Sep;18(3):352-5. doi: 10.4103/0971-6866.108033.

While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

虽然XYY和XXYY综合征已在患者中被多次描述，但个体同时出现这两种综合征的情况却很罕见，可能会导致严重的表型。在本观察中，描述了一名患有先天性脊柱侧凸的男孩，其病因是节段性胸半椎体，并伴有桡尺骨融合和先天性心脏病。染色体G显带和荧光原位杂交分析显示该患者为新发嵌合核型48, XXYY/47, XYY。据我们所知，这是XYY和XXYY综合征合并出现的首例报告。