ROTHMUND-THOMSON SYNDROME ASSOCIATED WITH TRISOMY-8 MOSAICISM

被引：42

作者：

YING, KL

OIZUMI, J

CURRY, CJR

机构：

[1] NATL CHILDRENS MED RES CTR,DIV METAB,TOKYO,JAPAN

[2] VALLEY CHILDRENS HOSP,DIV MED GENET,FRESNO,CA 93703

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 04期

关键词：

D O I：

10.1136/jmg.27.4.258

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.

引用

页码：258 / 260

页数：3

共 11 条

[1]

FRANCESCHETTI A., 1953, DERMATOLOGICA [BASEL], V106, P129

[2] ROTHMUND-THOMSON SYNDROME WITH SEVERE DWARFISM [J].

HALL, JG ;

PAGON, RA ;

WILSON, KM .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1980, 134 (02) :165-169

[3]

McKusick V. A., 1986, MENDELIAN INHERITANC

[4]

ROTHMUND A, 1868, GRAEFE ARCH KLIN EXP, V14, P159

[5]

SCHINZEL A, 1974, HELV PAEDIATR ACTA, V29, P531

[6] ROTHMUND-THOMSON SYNDROME - AN OCULOCUTANEOUS DISORDER [J].

SILVER, HK .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1966, 111 (02) :182-+

[7]

STARR DG, 1985, CLIN GENET, V27, P102

[8]

TAYLOR W, 1957, AMA ARCH DERMATOL, V73, P236

[9] An hitherto undescribed familial disease [J].

Thomson, MS .

BRITISH JOURNAL OF DERMATOLOGY AND SYPHILIS, 1923, 35 :455-462

[10]

Thomson MS, 1936, BRIT J DERMATOL, V48, P221

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