Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.
复制标题
染色体畸变的色素异常和嵌合体：与类似伊藤黑色素减少症的临床特征相关。
DOI：
10.1016/s0022-3476(05)81606-3
复制
发表时间：
1990
期刊：
影响因子：
--
通讯作者：
Bradley,CM
中科院分区：
文献类型：
--
作者：
Sybert,VP;Pagon,RA;Donlan,M;Bradley,CM
在我们的中心检查了13例伊藤色素减退症皮肤色素减退的患者，以及发育障碍或结构畸形，或两者兼而有之。八人被发现有异常核型的淋巴细胞，成纤维细胞，或两者兼而有之。在这组患者中，没有单一的临床特征可以预测染色体不平衡。细胞遗传学结果包括平衡的从头X-常染色体易位;环10; 45，X/46，X，+环;镶嵌del 13 q11（成纤维细胞）;镶嵌三倍体（成纤维细胞）;镶嵌四体12 p（成纤维细胞）;镶嵌明显平衡的15;22易位（外周血）;和镶嵌三体18（外周血）。伊藤色素减退症的特征是皮肤的漩涡状色素减退或色素脱失，伴或不伴其他畸形。常染色体显性遗传、常染色体隐性遗传和X连锁显性遗传已被提出，但尚未得到证实。染色体非整倍体也有报道。我们认为伊藤色素减少症是一种病因异质性的身体发现，并建议所有患者的发育迟缓或结构畸形相关的异常皮肤色素沉着的多个组织的核型分析。
Thirteen patients with hypopigmentation of the skin characteristic of hypomelanosis of Ito, and with developmental disabilities or structural malformations, or both, were examined at our center. Eight were found to have abnormal karyotypes in lymphocytes, fibroblasts, or both. No single clinical feature was predictive of chromosome imbalance in this group of patients. Cytogenetic findings included a balanced de novo X-autosome translocation; ring 10; 45,X/46,X,+ring; mosaic del 13q11 (fibroblasts); mosaic triploidy (fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood). Hypomelanosis of Ito is characterized by swirly hypopigmentation or depigmentation of the skin with or without other malformations. Autosomal dominant, autosomal recessive, and X-linked dominant inheritance have been suggested but not confirmed. Chromosomal aneuploidy has also been reported. We believe that hypomelanosis of Ito is an etiologically heterogeneous physical finding, and recommend karyotyping of multiple tissues of all patients with abnormal cutaneous pigmentation associated with developmental delay or structural malformations.
登录
查看更多内容
ITO二倍体/三倍体混合倍体与黑色素减少症
DOI：
10.1016/s0140-6736(86)91588-6
发表时间：
1986
期刊：
The Lancet
影响因子：
--
作者：
D. Donnai;C. Mckeown;T. Andrews;A. Read
通讯作者：
A. Read
影响因子：
5.1
作者：
GLOVER, MT;BRETT, EM;ATHERTON, DJ
通讯作者：
ATHERTON, DJ
影响因子：
4
作者：
DONNAI, D;READ, AP;ANDREWS, T
通讯作者：
ANDREWS, T
影响因子：
10.3
作者：
JACKSON, R
通讯作者：
JACKSON, R
诉讼结果：单侧系统性低色素痣。
影响因子：
--
作者：
Conant Ma;W. Crain
通讯作者：
W. Crain