Kennerknecht I, Barbi G, Greher J
Abteilung Klinische Genetik der Universität Ulm, Germany.
Ophthalmic Genet. 1994 Mar;15(1):19-24. doi: 10.3109/13816819409056906.
In a newborn with only minor malformations the finding of an extended interstitial chromosome deletion 13q was unexpectedly found [46,XY,del(13) (q14.11q22.2)]. The included deletion of chromosome band 13q14, which is known to be predisposing for retinoblastoma (Rb), gave rise to subsequent ophthalmological inspection. A multifocal tumor was detected immediately in the right eye and 11 months later contralaterally. In contrast to the Knudson hypothesis, which suggests a high risk of a multifocal and bilateral tumor in patients with an inherited mutation of the RB-1 gene, literature data indicate a reduced tumorigenesis in patients with a cytogenetic deletion of the critical Rb region of chromosome 13. However, the authors' patient shows that even with a cytogenetic deletion early, bilateral, and multifocal tumor formation is possible. Reliable risk estimates of tumorigenesis for patients with a chromosome deletion cannot be given, since most of these were ascertained by their tumor.
在一名仅有轻微畸形的新生儿中，意外发现了13号染色体长臂的扩展性间质缺失[46,XY,del(13)(q14.11q22.2)]。其中包含的13q14染色体带缺失，已知易患视网膜母细胞瘤（Rb），因此随后进行了眼科检查。右眼立即检测到多灶性肿瘤，11个月后对侧也检测到。与Knudson假说相反，该假说认为RB-1基因发生遗传性突变的患者发生多灶性和双侧肿瘤的风险很高，文献数据表明，13号染色体关键Rb区域发生细胞遗传学缺失的患者肿瘤发生风险降低。然而，作者的患者表明，即使存在细胞遗传学缺失，早期、双侧和多灶性肿瘤形成也是可能的。由于大多数染色体缺失患者是因肿瘤确诊的，因此无法给出可靠的肿瘤发生风险估计。
