Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion
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DOI：
10.1034/j.1399-0004.1999.550614.x
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发表时间：
1999-06-01
影响因子：
3.5
通讯作者：
Doz, F
中科院分区：
文献类型：
--
作者：
Baud, O;Cormier-Daire, V;Doz, F
我们描述了一系列的面部畸形表型和神经系统发育的22视网膜母细胞瘤患者共享一个细胞遗传学检测13 q缺失的回顾性和纵向研究。在大多数情况下，高分辨率显带分析，形态学分析，神经发育的结果，以及器官畸形的评估，进行。涉及RBI基因的染色体重排包括20个13 q间质缺失（包括16个从头缺失）和2个从头易位。最突出的畸形是耳垂前倾（90%），高而宽的前额（85%），和突出的人中（65%）。这种表型与69%的患者在2岁时的严重精神发育迟滞和/或运动障碍相关，并与13 q缺失的大小和位置相关。本研究的存活率（91%）与通常在视网膜母细胞瘤患者中看到的存活率没有差异。
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 RBI gene included 20 13q interstitial deletions (including 16 de novo deletions) and two de nolo 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.