A RECOGNIZABLE PATTERN OF THE MIDFACE OF RETINOBLASTOMA PATIENTS WITH INTERSTITIAL DELETION OF 13Q
A RECOGNIZABLE PATTERN OF THE MIDFACE OF RETINOBLASTOMA PATIENTS WITH INTERSTITIAL DELETION OF 13Q
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DOI：
10.1007/bf00327116
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发表时间：
1983-01-01
期刊：
影响因子：
5.3
通讯作者：
MINODA, K
中科院分区：
文献类型：
--
作者：
MOTEGI, T;KAGA, M;MINODA, K
视网膜母细胞瘤患者淋巴细胞中13号染色体的间质性缺失可识别面部中部的模式。其他患者的进一步照片证实了q12至q22间质性缺失13q的儿童中脸，总是涉及q14，其特征是眉毛突出，鼻梁宽，鼻尖球根状，嘴巴大，上唇薄，中唇长。这种中脸模式在正常核型患者中无法识别，这表明中脸表型和视网膜母细胞瘤的关键片段可能存在于13q14波段。
A recognizable pattern of the midface was found in retinoblastoma patients with interstitial deletion of chromsome 13 in lymphocytes. Further photographs of other patients confirmed the conclusion that the midface in children with interstitial deletion of 13q from q12 to q22, always involving q14, is characterized by prominent eyebrows, broad nasal bridge, bulbous tip of the nose, a large mouth with a thin upper lip and a long philtrum. This midface pattern could not be recognized in patients with normal karyotypes, suggesting that the critical segment for the midface phenotype as well as for retinoblastoma may exist in band 13q14.