THE TRICHO-RHINO-PHALANGEAL SYNDROME WITH EXOSTOSES (OR LANGER-GIEDION SYNDROME) - 4 ADDITIONAL PATIENTS WITHOUT MENTAL-RETARDATION AND REVIEW OF THE LITERATURE

被引：93

作者：

LANGER, LO

KRASSIKOFF, N

LAXOVA, R

SCHEERWILLIAMS, M

LUTTER, LD

GORLIN, RJ

JENNINGS, CG

DAY, DW

机构：

[1] UNIV WISCONSIN, CTR HLTH SCI, DEPT RADIOL, MADISON, WI 53792 USA

[2] UNIV WISCONSIN, CTR HLTH SCI, DEPT MED GENET, MADISON, WI 53792 USA

[3] GILLETTE CHILDRENS HOSP, DEPT ORTHOPED SURG, ST PAUL, MN 55101 USA

[4] UNIV MINNESOTA, SCH DENT, DEPT ORAL PATHOL & GENET, MINNEAPOLIS, MN 55455 USA

[5] CHILDRENS HOSP MICHIGAN, APPRAISAL CTR EARLY CHILD DEV, DETROIT, MI USA

[6] UNIV ILLINOIS, COLL MED, CTR CRANIOFACIAL ANOMALIES, CHICAGO, IL 60680 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1984年 / 19卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320190110

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：81 / 112

页数：32

共 34 条

[1]

ALE G, 1961, Ann Radiol Diagn (Bologna), V34, P376

[2] SMALL STRUCTURAL-CHANGES OF CHROMOSOME-8 - 2 CASES WITH EVIDENCE FOR DELETION [J].

BEIGHLE, C ;

KARP, LE ;

HANSON, JW ;

HALL, JG ;

HOEHN, H .

HUMAN GENETICS, 1977, 38 (01) :113-121

[3] CHROMOSOME DELETION AND MULTIPLE CARTILAGINOUS EXOSTOSES [J].

BUHLER, EM ;

BUHLER, UK ;

STALDER, GR ;

JANI, L ;

JURIK, LP .

EUROPEAN JOURNAL OF PEDIATRICS, 1980, 133 (02) :163-166

[4] TERMINAL OR INTERSTITIAL DELETION IN CHROMOSOME-8 LONG ARM IN LANGER-GIEDION SYNDROME (TRP-II SYNDROME) [J].

BUHLER, EM ;

BUHLER, UK ;

CHRISTEN, R .

HUMAN GENETICS, 1983, 64 (02) :163-166

[5] LANGER-GIEDION SYNDROME AND 8Q-DELETION [J].

BUHLER, EM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 11 (03) :359-359

[6] DELETION OF LONG ARM OF CHROMOSOME-8 RESULTING FROM A DENOVO TRANSLOCATION T(4-8) (Q13-Q213) [J].

DALLAPICCOLA, B ;

SANTORO, L ;

TRABACE, S ;

RAMENGHI, M ;

MASTROIACOVO, P ;

GANDINI, E .

HUMAN GENETICS, 1977, 38 (02) :125-130

[7] MICRO-CYTOGENETICS AND LANGER-GIEDION SYNDROME [J].

FRONTALI, M ;

RAMENGHI, M ;

TRABACE, S ;

DALLAPICCOLA, B .

JOURNAL OF MEDICAL GENETICS, 1982, 19 (05) :390-391

[8] INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-8 - KARYOTYPE - 46,XY,DEL(8)(Q21) [J].

FRYNS, JP ;

LOGGHE, N ;

VANEYGEN, M ;

VANDENBERGHE, H .

HUMAN GENETICS, 1979, 48 (01) :127-130

[9] LANGER-GIEDION SYNDROME AND DELETION OF THE LONG ARM OF CHROMOSOME-8 - CONFIRMATION OF THE CRITICAL SEGMENT TO 8Q23 [J].

FRYNS, JP ;

HEREMANS, G ;

MARIEN, J ;

VANDENBERGHE, H .

HUMAN GENETICS, 1983, 64 (02) :194-195

[10]

FRYNS JP, 1980, J GENET HUM, V28, P53

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