Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient
Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient
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环状 7 号染色体患者高度增殖性黑素细胞先天性痣中 7 号染色体的体细胞嵌合
DOI：
10.1002/ajmg.a.30370
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发表时间：
2004
影响因子：
2
通讯作者：
D. Dill
中科院分区：
文献类型：
--
作者：
Y. Mehraein;Sandra Ehlhardt;A. Wagner;E. Göttert;W. Tilgen;K. Zang;D. Dill
7号环染色体是一种罕见但有充分文献记载的人类染色体畸变。到目前为止，文献中至少报道了14例病例，显示受影响个体的表型特征具有可变但明显的模式。除其他外，皮肤上的色素痣尤其常见。在结构异常的7号染色体环中，染色体末端臂的染色体物质丢失以及7号染色体缺失或增加的体细胞镶嵌现象被认为是导致临床症状的原因。我们现在报告了另一例14岁男孩的7号染色体环，该男孩患有多种显著的先天性痣，我们首次证明了体细胞嵌合现象，在高度增殖的黑素细胞性先天性痣（MCN）中显示了7号染色体的显著增加。©2004 Wiley‐Liss, Inc。
Ring chromosome 7 is a rare but well documented chromosomal aberration in man. So far at least 14 cases have been reported in the literature showing a variable but distinct pattern of phenotypic characteristics in affected individuals. Besides others, skin findings as pigmented naevi are especially frequent. Loss of chromosomal material from the terminal chromosome arms in the structurally abnormal ring chromosome 7 as well as somatic mosaicism with loss or gain of chromosome 7 has been suggested to be responsible for the clinical symptoms. We now report another case of a ring chromosome 7 in a 14‐year‐old boy with multiple remarkable congenital naevi, where we could demonstrate for the first time somatic mosaicism showing significant gain of chromosome 7 within a highly proliferating melanocytic congenital naevus (MCN). © 2004 Wiley‐Liss, Inc.