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首页> 外文期刊>Case Reports in Genetics >Idiopathic Central Precocious Puberty Associated with 11 MbDe NovoDistal Deletion of the Chromosome 9 Short Arm
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Idiopathic Central Precocious Puberty Associated with 11 MbDe NovoDistal Deletion of the Chromosome 9 Short Arm

机译：与11 MbDe NovoDistal染色体9短臂缺失相关的特发性中枢性性早熟

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We report a girl with ade novodistal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). To our knowledge, this is the second reported case of precocious puberty associated with 9p distal deletion. A third case associates precocious puberty with a more proximal 9p deletion del(9)(p12p13,3). In our case, more than 40 genes were encompassed in the deleted region, among which, DMRT1 which is gonad-specific and has a sexually dimorphic expression pattern and ERMP1 which is required in rats for the organization of somatic cells and oocytes into discrete follicular structures. Although we cannot exclude that precocious puberty in our del(9p) patient is a coincidental finding, the report of the other two patients with 9p deletions and precocious puberty indeed suggests a causative relationship.
机译：我们报道了一个患有9p ade novodistal缺失的女孩，该女孩受到特发性中枢性性早熟和智力残疾的影响。全基因组阵列CGH揭示了约11 Mb的末端缺失，使她的核型定义为46。 XX，del（9）（p23-pter）。据我们所知，这是第二个报道的性早熟与9p远端缺失相关的病例。第三例将早熟青春期与更近端的9p缺失del（9）（p12p13,3）相关联。在我们的案例中，缺失区域包含40多个基因，其中，性腺特异性的DMRT1和具有性二态性表达模式的DMRT1和大鼠中的ERMP1要求将体细胞和卵母细胞组织成离散的卵泡结构。尽管我们不能排除del（9p）患者的性早熟是一个偶然发现，但其他两名9p缺失和性早熟的患者的报告确实表明存在因果关系。

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