PARTIAL 18 TRISOMY SYNDROME RESULTING FROM PATERNAL 6-18 RECIPROCAL TRANSLOCATION

被引：4

作者：

FUKUHARA, K

MINO, M

KUSUNOKI, T

MISAWA, S

MORITA, M

ABE, T

机构：

[1] KYOTO PREFECTURAL UNIV MED,DEPT PREVENT MED,KYOTO 602,JAPAN

[2] KYOTO PREFECTURAL UNIV MED,DEPT INTERNAL MED 3,KYOTO 602,JAPAN

来源：

JAPANESE JOURNAL OF HUMAN GENETICS | 1979年 / 24卷 / 01期

关键词：

D O I：

10.1007/BF01890107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A female infant with distal 18q trisomy, confirmed by G- and Q-banding was reported. Her karyotype was 46,XX,-6,+der(6), t(6;18) (18qter→18q21::6p24 or 25→6pter)pat. She had the following clinical stigmata: hypertelorism, coloboma, bulbous nose with shallow nasal bridge, high arched palate, small chin, folds of redundant nuchal skin, hemangioma and limited abduction of the hip joints. © 1979 The Japan Society of Human Genetics.

引用

页码：13 / 20

页数：8

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