EXAMINATION OF THE SPECTRUM OF ANATOMIC DEFECTS AND VARIATIONS FOUND IN 8 CASES OF TRISOMY-13

被引：35

作者：

PETTERSEN, JC ^{[1
]}

KOLTIS, GG ^{[1
]}

WHITE, MJ ^{[1
]}

机构：

[1] UNIV WISCONSIN,SCH MED,DEPT PATHOL,MADISON,WI 53706

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1979年 / 3卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320030209

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The authors report the anatomic variations found in four additional cases of trisomy 13. Data from these and four previous cases are utilized to define a muscle phenotype. Previously unreported defects include the bilateral presence of cervical ribs and the bilateral absence of 12th thoracic ribs in five of the eight cases. One unusual developmental defect of the great vessels is also described. The findings suggest that a definitive diagnosis of trisomy 13 can be made on the basis of six muscle variations.

引用

页码：183 / 210

页数：28

共 29 条

[1]

[Anonymous], 1870, PHILOS T R SOC LOND, DOI DOI 10.1098/RSTL.1870.0007

[2]

ARAKAKI DT, 1969, J PEDIATR, V75, P620

[3] ANATOMICAL ANALYSIS OF DEVELOPMENTAL EFFECTS OF ANEUPLOIDY IN MAN - 18-TRISOMY SYNDROME .1. ANOMALIES OF HEAD AND NECK [J].

BERSU, ET ;

RAMIREZCASTRO, JL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1977, 1 (02) :173-193

[4]

BERSU ET, 1976, THESIS U WISCONSIN

[5]

BERSU ET, 1978, COMMUNICATION

[6]

BUHLER E, 1962, ANN PAEDIATR-BASEL, V199, P198

[7]

COHEN M M JR, 1971, Birth Defects Original Article Series, V7, P125

[8] ANALYSIS OF GROSS ANATOMICAL VARIATIONS FOUND IN 4 CASES OF TRISOMY-13 [J].

COLACINO, SC ;

PETTERSEN, JC .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 2 (01) :31-50

[9]

Diebold J, 1967, Arch Anat Pathol (Paris), V15, P277

[10]

EGLI F, 1973, HUMANGENETIK, V18, P1

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