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

被引：4
作者：
FUKUHARA, K
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.
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页码：13 / 20
页数：8
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