IDENTIFICATION OF A SUPERNUMERARY MARKER DERIVED FROM CHROMOSOME-17 USING FISH

被引：14

作者：

ROSENBERG, C

BOROVIK, CL

CANONACO, RS

SICHERO, LC

QUEIROZ, APS

VIANNAMORGANTE, AM

机构：

[1] UNIV SAO PAULO,DEPT BIOL,BR-05422970 SAO PAULO,BRAZIL

[2] SERVIDOR PUBL ESTADUAL,INST ASSIST MED,SAO PAULO,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 01期

关键词：

PARTIAL TRISOMY 17; MARKER CHROMOSOME; IN SITU HYBRIDIZATION;

D O I：

10.1002/ajmg.1320590107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 15-year-old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17. (C) 1995 Wiley-Liss, Inc.

引用

页码：33 / 35

页数：3

共 9 条

[1]

BLENNOW E, 1993, AM J HUM GENET, V53, P433

[2] 44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME [J].

BUCKTON, KE ;

SPOWART, G ;

NEWTON, MS ;

EVANS, HJ .

HUMAN GENETICS, 1985, 69 (04) :353-370

[3]

CALLEN DF, 1991, AM J HUM GENET, V48, P769

[4]

RAUCH A, 1992, CLIN GENET, V42, P84

[5] INTRAGENIC REORGANIZATION OF RB1 IN A COMPLEX (4 13) REARRANGEMENT DEMONSTRATED BY FISH [J].

ROSENBERG, C ;

JANSON, M ;

NORDESKJOLD, M ;

BORRESEN, AL ;

VIANNAMORGANTE, AM .

CYTOGENETICS AND CELL GENETICS, 1994, 65 (04) :268-271

[6]

Schinzel A, 1984, CATALOGUE UNBALANCED

[7] DETECTION OF 1Q POLYSOMY IN INTERPHASE NUCLEI OF HUMAN SOLID TUMORS WITH A BIOTINYLATED PROBE [J].

VIEGASPEQUIGNOT, E ;

JEANPIERRE, M ;

DUTRILLAUX, AM ;

GERBAULTSEUREAU, M ;

MULERIS, M ;

DUTRILLAUX, B .

HUMAN GENETICS, 1989, 81 (04) :311-314

[8] OUTCOME OF CASES OF DENOVO STRUCTURAL REARRANGEMENTS DIAGNOSED AT AMNIOCENTESIS [J].

WARBURTON, D .

PRENATAL DIAGNOSIS, 1984, 4 :69-80

[9] MOLECULAR ANALYSIS OF A DELETION POLYMORPHISM IN ALPHA SATELLITE OF HUMAN CHROMOSOME-17 - EVIDENCE FOR HOMOLOGOUS UNEQUAL CROSSING-OVER AND SUBSEQUENT FIXATION [J].

WAYE, JS ;

WILLARD, HF .

NUCLEIC ACIDS RESEARCH, 1986, 14 (17) :6915-6927

← 1 →