两名视网膜母细胞瘤患者存在13号染色体长臂缺失，其中一名患者的缺失可能源于母亲的13号染色体长臂嵌合体。

Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother.

作者信息

Michalová K, Kloucek F, Musilová J

出版信息

Hum Genet. 1982;61(3):264-6. doi: 10.1007/BF00296457.

Abstract

We examined the peripheral blood chromosomes of eight patients with retinoblastoma. In two of them an interstitial deletion of 13q was found. The breakpoints were determined as follows: case 1, 13q12 leads to 21; case 2 13q12 leads to 31. In both cases, band 13q14 was deleted. In case 2 the lymphocytes of the mother showed the identical interstitial 13q deletion in 3 of 100 mitoses, thus raising the possibility of maternal origin of the 13q deletion in a child. In one patient, retinoblastoma was unilateral; in the other, bilateral. Both patients were mentally retarded.

摘要

我们检查了8例视网膜母细胞瘤患者的外周血染色体。其中2例发现13号染色体长臂存在中间缺失。断点确定如下：病例1，13q12至21；病例2，13q12至31。在这两个病例中，13q14带均缺失。在病例2中，母亲的淋巴细胞在100个有丝分裂中有3个显示出相同的13号染色体长臂中间缺失，因此增加了孩子13号染色体长臂缺失源于母亲的可能性。1例患者的视网膜母细胞瘤为单侧；另1例为双侧。两名患者均有智力障碍。