CONSTITUTIONAL TRANSLOCATION T(4,22) (Q12,Q12.2) ASSOCIATED WITH NEUROFIBROMATOSIS TYPE-2

被引：12

作者：

ARAI, E

IKEUCHI, T

KARASAWA, S

TAMURA, A

YAMAMOTO, K

KIDA, M

ICHIMURA, K

YUASA, Y

TONOMURA, A

机构：

[1] TOKYO MED & DENT UNIV,INST MED RES,DEPT CYTOGENET,1-5-45 YUSHIMA,BUNKYO KU,TOKYO 113,JAPAN

[2] TOKYO MED & DENT UNIV,INST MED RES,DEPT VIROL & IMMUNOL,TOKYO 113,JAPAN

[3] TEIKYO UNIV,SCH MED,DEPT NEUROSURG,TOKYO 173,JAPAN

[4] TEIKYO UNIV,SCH MED,DEPT PEDIAT,TOKYO 173,JAPAN

[5] TOKYO MED & DENT UNIV,DEPT HYG & ONCOL,TOKYO 113,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 02期

关键词：

NEUROFIBROMATOSIS TYPE-2; BILATERAL ACOUSTIC NEURINOMA; CONSTITUTIONAL CHROMOSOME TRANSLOCATION; CHROMOSOME-22; TUMOR-SUPPRESSOR GENE;

D O I：

10.1002/ajmg.1320440209

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2). The precise identification of the translocation breakpoint (q12.2) on chromosome 22 implies the refined localization of a gene responsible for NF2, and would provide a clue to its molecular characterization and to the isolation of the gene. Chromosomes of a paraspinal neurinoma from the patient were also analyzed, and the same karyotype as seen in cultured peripheral lymphocytes was found. The patient's father was also a carrier of the translocation, but he had no clinical symptoms of NF2, nor did other relatives. Several explanations are offered for the different expression of the translocation between the patient and her father.

引用

页码：163 / 167

页数：5

共 36 条

[31] CYTOGENETIC AND INSITU DNA-HYBRIDIZATION STUDIES IN INTRACRANIAL TUMORS OF A PATIENT WITH CENTRAL NEUROFIBROMATOSIS [J].