De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH

被引：0

作者：

Curotti, G

Benkhalifa, M

Raybaud, C

Picard, F

Bellec, V

Qumsiyeh, MB

机构：

[1] Lab Marcel Merieux, Lyon, France

[2] Ctr Hosp Montelimar, Montelimar, France

[3] Univ Rennes, Histol Embryol Cytogenet Lab, Rennes, France

[4] Duke Univ, Med Ctr, Durham, NC USA

来源：

GENETIC COUNSELING | 1999年 / 10卷 / 03期

关键词：

complex chromosome rearrangement fluorescence in situ hybridization; molecular cytogenetics;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

De novo highly complex chromosome rearrangement (CCR) involving dye breakpoints with congenital anomalies analyzed bg FISH: We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.

引用

页码：259 / 264

页数：6

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