[8号染色体短臂的反向重复]

[Inverted duplication of the short arm of chromosome 8].

作者信息

Rodríguez Martínez L, Jiménez Muñoz-Delgado N, Nieto C, Martínez Carrascal A, López Grondona F, Martínez Frías M L

机构信息

Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC), Facultad de Medicina, Universidad Complutense, Madrid.

出版信息

An Esp Pediatr. 2001 Nov;55(5):458-62.

PMID:11696311

Abstract

We report two cases of agenesis of corpus callosum in which high resolution G-band cytogenetic study revealed inverted duplication of the short arm of chromosome 8. The application of hybridization techniques with fluorescence in situ hybridization (FISH) confirmed chromosomal alteration in both cases. The definitive karyotype was 46, XY or XX inv dup del (8) (qter-p23.1::p23.1-p11.2).ish (WCP 8 ) (tel 8p-).

摘要

我们报告了两例胼胝体发育不全病例，其中高分辨率G带细胞遗传学研究显示8号染色体短臂倒位重复。荧光原位杂交（FISH）杂交技术的应用证实了这两例病例中的染色体改变。最终核型为46，XY或XX inv dup del（8）（qter-p23.1::p23.1-p11.2）。ish（WCP 8）（tel 8p-）