Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.
Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.
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散发性双侧视网膜母细胞瘤和 13q-染色体缺失。
DOI：
10.1002/mpo.2950020404
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发表时间：
1976
期刊：
影响因子：
--
通讯作者：
F. Kung
中科院分区：
文献类型：
--
作者：
U. Francke;F. Kung
单侧视网膜母细胞瘤（Rb）通常是散发性的，而双侧（多灶）病例通常是家族性的。散发性双侧Rb伴d组染色体长臂缺失已在8例儿童中报道。我们研究了一位患有双侧散发性视网膜母细胞瘤的6岁女性，在婴儿期通过去核和放疗治疗。外周淋巴细胞的染色体显带研究显示染色体13:del(13) （q12q14）长臂间质缺失。文献中报道的另外三例患者有间质性13q-缺失，涉及的区域虽然重叠但略有不同。在所有这4例病例中，唯一一致缺失的染色体区域似乎是轻度染色带13q14的一部分。因此，我们提出这个位点是参与视网膜发育的基因（或基因）的精确位置。我们的患者缺乏典型的13q或13环综合征的特征，其中包括13号长臂远端部分的缺失。与报道的Rb和13q-患者相比，很明显，可能存在一个单独的可识别综合征，包括中度生长发育迟缓，特征相和外耳，以及双侧散发性Rb，这与间质性13q-缺失有关。
Unilateral retinoblastoma (Rb) is usually a sporadic occurrence while bilateral (multifocal) cases are often familial. Sporadic bilateral Rb associated with a long-arm deletion of a D-group chromosome has been reported in 8 children. We have studied a 6-year-old female with bilateral sporadic retinoblastoma, treated during infancy by enucleation and radiotherapy. Chromosome banding studies on peripheral lymphocytes revealed an interstitial deletion from the long arm of a chromosome 13: del(13) (q12q14). Three additional patients reported in the literature had interstitial 13q- deletions, involving slightly different though overlapping regions. The only chromosomal region consistently missing in all of these 4 cases appears to be part of the lightly staining band 13q14. We, therefore, propose this site as the precise location of a gene (or genes) involved in retinal development. Our patient lacked features of the classic 13q- or 13-ring syndrome, which involves deletion of a more distal portion of the 13 long arm. When compared to reported patients with Rb and 13q-, it became apparent that there may be a separate recognizable syndrome consisting of moderate growth and developmental delay, characteristic facies and external ears, and bilateral sporadic Rb, which is associated with an interstitial 13q- deletion.