GENETIC-HETEROGENEITY IN RIEGER EYE MALFORMATION

被引：17

作者：

LEGIUS, E

DEDIESMULDERS, CEM

VERBRAAK, F

HABEX, H

DECORTE, R

MARYNEN, P

FRYNS, JP

CASSIMAN, JJ

机构：

[1] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM

[2] DEPT CLIN GENET,MAASTRICHT,NETHERLANDS

[3] NETHERLANDS OPHTHALM RES INST,AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 04期

关键词：

D O I：

10.1136/jmg.31.4.340

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

引用

页码：340 / 341

页数：2

共 14 条

[1]

FERRELL RE, 1982, AM J HUM GENET, V34, P245

[2]

FREIMER NB, 1993, AM J HUM GENET, V52, P1102

[3]

Fryns J. P., 1992, Genetic Counseling, V3, P153

[4] RIEGER SYNDROME [J].

JORGENSON, RJ ;

LEVIN, LS ;

CROSS, HE ;

YODER, F ;

KELLY, TE .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 2 (03) :307-318

[5]

LATHROP GM, 1985, AM J HUM GENET, V37, P482

[6]

LIGUTIC I, 1981, CLIN GENET, V20, P323

[7] GENETIC AND PHYSICAL MAPS OF HUMAN CHROMOSOME-4 BASED ON DINUCLEOTIDE REPEATS [J].

MILLS, KA ;

BUETOW, KH ;

XU, Y ;

WEBER, JL ;

ALTHERR, MR ;

WASMUTH, JJ ;

MURRAY, JC .

GENOMICS, 1992, 14 (02) :209-219

[8] DELETIONS OF DIFFERENT SEGMENTS OF THE LONG ARM OF CHROMOSOME-4 [J].

MITCHELL, JA ;

PACKMAN, S ;

LOUGHMAN, WD ;

FINEMAN, RM ;

ZACKAI, E ;

PATIL, SR ;

EMANUEL, B ;

BARTLEY, JA ;

HANSON, JW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 8 (01) :73-89

[9] LINKAGE OF RIEGER SYNDROME TO THE REGION OF THE EPIDERMAL GROWTH-FACTOR GENE ON CHROMOSOME-4 [J].

MURRAY, JC ;

BENNETT, SR ;

KWITEK, AE ;

SMALL, KW ;

SCHINZEL, A ;

ALWARD, WLM ;

WEBER, JL ;

BELL, GI ;

BUETOW, KH .

NATURE GENETICS, 1992, 2 (01) :46-49

[10] A CASE OF PARTIAL MONOSOMY 21Q22.2 ASSOCIATED WITH RIEGERS SYNDROME [J].

NIELSEN, F ;

TRANEBJAERG, L .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (03) :218-221

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