TRISOMY-9 MOSAICISM WITH PUNCTATE MINERALIZATION IN DEVELOPING CARTILAGES

被引：21

作者：

AKATSUKA, A

NISHIYA, O

KITAGAWA, T

KAGEYAMA, A

INANA, I

NAKAGOME, Y

机构：

[1] OMORI RED CROSS HOSP,DEPT PEDIAT,TOKYO,JAPAN

[2] NIHON UNIV,SCH MED,DEPT PEDIAT,TOKYO 101,JAPAN

[3] NATL INST GENET,DEPT HUMAN GENET,MISHIMA,SHIZUOKA 411,JAPAN

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1979年 / 131卷 / 04期

关键词：

Punctate cartilage mineralization; Trisomy; 9; mosaicism;

D O I：

10.1007/BF00444348

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A case of mosaic trisomy 9 (46,XX/47,XX,+9) is described. The main clinical findings included intrauterine growth retardation, failure to thrive, hydrocephalus, deeply set eyes, prominent antihelix, highly arched palate, subluxation of the interphalangeal joints of some fingers, hip dislocation, excessive sweating, and punctate mineralization in developing cartilages. © 1979 Springer-Verlag.

引用

页码：271 / 275

页数：5

共 12 条

[1] TRISOMY 9 MOSAICISM IN A NEWBORN-INFANT WITH MULTIPLE MALFORMATIONS [J].