RETINOBLASTOMA IN A PATIENT WITH A 13QXP TRANSLOCATION
RETINOBLASTOMA IN A PATIENT WITH A 13QXP TRANSLOCATION
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DOI：
10.1016/0002-9394(77)90450-0
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发表时间：
1977-01-01
影响因子：
4.2
通讯作者：
DAVIS, JR
中科院分区：
文献类型：
--
作者：
CROSS, HE;HANSEN, RC;DAVIS, JR
一名发育不良的女婴患有双侧视网膜母细胞瘤，其13号染色体长臂易位至X染色体短臂，并可能丢失部分q14带。该患者缺乏其他主要器官畸形，强调了考虑染色体畸变作为非特异性精神发育迟滞患者视网膜母细胞瘤可能病因的重要性。
An infant girl with failure to thrive and bilateral retinoblastoma had a translocation of the long arm of chromosome 13 to the short arm of the X chromosome, and possible loss of a portion of the q14 band. The lack of other major organ malformations in this patient emphasized the importance of considering chromosomal aberrations as a possible etiology of retinoblastoma in patients with nonspecific psychomotor retardation.