CONFIRMATION OF DOWN-SYNDROME CRITICAL REGION BY FISH ANALYSIS IN A PATIENT WITH ADD(21)(P11)

被引:5
作者
MATSUMOTO, N [1 ]
NIIKAWA, N [1 ]
MIKAWA, M [1 ]
机构
[1] KITAMI RED CROSS HOSP,DEPT PEDIAT,KITAMI,HOKKAIDO,JAPAN
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 04期
关键词
D O I
10.1002/ajmg.1320590422
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:521 / 522
页数:2
相关论文
共 6 条
[1]   CONTINUUM OF OVERLAPPING CLONES SPANNING THE ENTIRE HUMAN CHROMOSOME-21Q [J].
CHUMAKOV, I ;
RIGAULT, P ;
GUILLOU, S ;
OUGEN, P ;
BILLAUT, A ;
GUASCONI, G ;
GERVY, P ;
LEGALL, I ;
SOULARUE, P ;
GRINAS, L ;
BOUGUELERET, L ;
BELLANNECHANTELOT, C ;
LACROIX, B ;
BARILLOT, E ;
GESNOUIN, P ;
POOK, S ;
VAYSSEIX, G ;
FRELAT, G ;
SCHMITZ, A ;
SAMBUCY, JL ;
BOSCH, A ;
ESTIVILL, X ;
WEISSENBACH, J ;
VIGNAL, A ;
RIETHMAN, H ;
COX, D ;
PATTERSON, D ;
GARDINER, K ;
HATTORI, M ;
SAKAKI, Y ;
ICHIKAWA, H ;
OHKI, M ;
LEPASLIER, D ;
HEILIG, R ;
ANTONARAKIS, S ;
COHEN, D .
NATURE, 1992, 359 (6394) :380-387
[2]   MICRODISSECTION OF HUMAN CHROMOSOMAL REGIONS 8Q23.3-Q24.11 AND 2Q33-QTER - CONSTRUCTION OF DNA LIBRARIES AND ISOLATION OF THEIR CLONES [J].
HIROTA, T ;
TSUKAMOTO, K ;
DENG, HX ;
YOSHIURA, K ;
OHTA, T ;
TOHMA, T ;
KIBE, T ;
HARADA, N ;
JINNO, Y ;
NIIKAWA, N .
GENOMICS, 1992, 13 (02) :349-354
[3]   DOWN-SYNDROME PHENOTYPES - THE CONSEQUENCES OF CHROMOSOMAL IMBALANCE [J].
KORENBERG, JR ;
CHEN, XN ;
SCHIPPER, R ;
SUN, Z ;
GONSKY, R ;
GERWEHR, S ;
CARPENTER, N ;
DAUMER, C ;
DIGNAN, P ;
DISTECHE, C ;
GRAHAM, JM ;
HUGDINS, L ;
MCGILLIVRAY, B ;
MIYAZAKI, K ;
OGASAWARA, N ;
PARK, JP ;
PAGON, R ;
PUESCHEL, S ;
SACK, G ;
SAY, B ;
SCHUFFENHAUER, S ;
SOUKUP, S ;
YAMANAKA, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (11) :4997-5001
[4]  
KORENBERG JR, 1990, AM J HUM GENET, V47, P236
[5]   CRITICAL ROLE OF THE D21S55 REGION ON CHROMOSOME-21 IN THE PATHOGENESIS OF DOWN SYNDROME [J].
RAHMANI, Z ;
BLOUIN, JL ;
CREAUGOLDBERG, N ;
WATKINS, PC ;
MATTEI, JF ;
POISSONNIER, M ;
PRIEUR, M ;
CHETTOUH, Z ;
NICOLE, A ;
AURIAS, A ;
SINET, PM ;
DELABAR, JM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (15) :5958-5962
[6]   ISOLATION AND CHARACTERIZATION OF MUTATIONS IN THE HUMAN HOLOCARBOXYLASE SYNTHETASE CDNA [J].
SUZUKI, Y ;
AOKI, Y ;
ISHIDA, Y ;
CHIBA, Y ;
IWAMATSU, A ;
KISHINO, T ;
NIIKAWA, N ;
MATSUBARA, Y ;
NARISAWA, K .
NATURE GENETICS, 1994, 8 (02) :122-128