Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F
The Department of Pediatric Oncology, Institut Pierre et Marie Curie, Necker Enfants Malades Hospital, Paris, France.
Clin Genet. 1999 Jun;55(6):478-82. doi: 10.1034/j.1399-0004.1999.550614.x.
We describe the facial dysmorphic phenotype and the neurological development of a series of 22 retinoblastoma patients sharing a cytogenetically detectable 13q deletion in a retrospective and longitudinal study. In most of the cases, high-resolution banding analysis, morphological analysis, and assessment for neurodevelopmental outcome, as well for organ malformations, were performed. Chromosomal rearrangement involving the RB1 gene included 20 13q interstitial deletions (including 16 de novo deletions) and two (de novo translocations. The most prominent dysmorphic abnormalities were anteverted ear lobes (90%), a high and broad forehead (85%), and a prominent philtrum (65%). This phenotype was associated with severe mental retardation and/or motor impairment at age 2 years in 69% of patients and correlated with the size and the location of the 13q deletion. The survival rate of our series (91%) was not different from that usually seen in retinoblastoma patients.
在一项回顾性纵向研究中，我们描述了一系列22例视网膜母细胞瘤患者的面部畸形表型和神经发育情况，这些患者均存在细胞遗传学可检测到的13q缺失。在大多数病例中，进行了高分辨率带型分析、形态学分析以及神经发育结局评估和器官畸形评估。涉及RB1基因的染色体重排包括20例13q间质缺失（包括16例新发缺失）和2例（新发易位）。最显著的畸形异常是耳垂前倾（90%）、额高且宽（85%）以及人中突出（65%）。69%的患者在2岁时出现这种表型，并伴有严重智力发育迟缓或运动障碍，且与13q缺失的大小和位置相关。我们这组患者的生存率（91%）与视网膜母细胞瘤患者通常的生存率并无差异。
