一名8号染色体重复患者的脆性X智力低下相关基因FRAXF
FRAXF in a patient with chromosome 8 duplication.
作者信息
Vianna-Morgante A M, Mingroni-Netto R C, Barbosa A C, Otto P A, Rosenberg C
机构信息
Departamento de Biologia, Universidade de Säo Paulo, Brazil.
出版信息
J Med Genet. 1996 Jul;33(7):611-4. doi: 10.1136/jmg.33.7.611.
We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8. The fragile site was shown by FISH to be distal to both FRAXA and FRAXE. DNA hybridisation with probe OxF14 showed the amplification of the CGG repeats of locus FRAXF in the patient and in her clinically normal mother.
我们报告了一名患有多种先天性异常和智力发育迟缓综合征的女孩，其Xq27 - 28存在一个叶酸敏感脆性位点，该女孩还携带8号染色体长臂的重复。荧光原位杂交显示该脆性位点位于FRAXA和FRAXE的远端。用探针OxF14进行DNA杂交显示，患者及其临床正常的母亲中FRAXF位点的CGG重复序列发生了扩增。
Zotero 插件