Functional disomy of the Xq28 chromosome region
Functional disomy of the Xq28 chromosome region
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DOI：
10.1038/sj.ejhg.5201384
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发表时间：
2005-05-01
影响因子：
5.2
通讯作者：
Turleau, C
中科院分区：
文献类型：
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作者：
Sanlaville, D;Prieur, M;Turleau, C
我们报告两名患者，一个男孩和一个女孩，额外的Xq 28染色体片段易位到长臂的常染色体。核型分别为46，XY，der（10）t（X; 10）（q28; qter）和46，XX，der（4）t（X; 4）（q28; q34）。在这两种情况下，从头隐藏的不平衡X-常染色体易位导致Xq 28染色体功能二体性。据我们所知，至少有17例患者远端Xq染色体功能性二体性已在文献中描述。这是第三个报告的女孩与不平衡易位产生这样的二体。当这两名患者的临床特征进行比较，在文献中报道的患者中观察到的，一个独特的表型出现，包括严重的精神发育迟滞，面部畸形的功能与宽脸，小口和薄尖鼻，主要轴向肌张力减退，严重的喂养问题和感染倾向。一个面向临床的FISH研究，使用亚端粒探针是必要的，以检测这样一个隐蔽的重排。
We report on two patients, a boy and a girl, with an additional Xq28 chromosome segment translocated onto the long arm of an autosome. The karyotypes were 46, XY, der( 10) t( X; 10)( q28; qter) and 46, XX, der( 4) t( X; 4)( q28; q34), respectively. In both cases, the de novo cryptic unbalanced X-autosome translocation resulted in a Xq28 chromosome functional disomy. To our knowledge, at least 17 patients with a distal Xq chromosome functional disomy have been described in the literature. This is the third report of a girl with an unbalanced translocation yielding such a disomy. When the clinical features of both patients are compared to those observed in patients reported in the literature, a distinct phenotype emerges including severe mental retardation, facial dysmorphic features with a wide face, a small mouth and a thin pointed nose, major axial hypotonia, severe feeding problems and proneness to infections. A clinically oriented FISH study using subtelomeric probes is necessary to detect such a cryptic rearrangement.