MULTIPLE EXOSTOSES IN A PATIENT WITH T(8-11)(Q24.11-P15.5)

被引：24

作者：

OGLE, RF

DALZELL, P

TURNER, G

WASS, D

YIP, MY

机构：

[1] PRINCE WALES HOSP,CYTOGENET & CELL BIOL UNIT,RANDWICK,NSW 2031,AUSTRALIA

[2] PRINCE WALES CHILDRENS HOSP,DEPT MED GENET,SYDNEY,AUSTRALIA

[3] ROYAL HOSP WOMEN,DEPT OBSTET & GYNAECOL,SYDNEY,AUSTRALIA

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 12期

关键词：

D O I：

10.1136/jmg.28.12.881

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The occurrence of multiple exostoses in a carrier of a balanced translocation t(8;11) (q24.11;p15.5) is described. The breakpoint on chromosome 8 is at proximal q24.1 within the critical region reported for Langer-Giedion syndrome.

引用

页码：881 / 883

页数：3

共 7 条

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[2] BUHLER EM, 1987, CLIN GENET, V31, P273
[3] PARTIAL DELETION 8Q WITHOUT LANGER-GIEDION SYNDROME - A RECOGNIZABLE SYNDROME
FENNELL, SJ
BENSON, JWT
KINDLEY, AD
SCHWARZ, MJ
CZEPULKOWSKI, B
[J]. JOURNAL OF MEDICAL GENETICS, 1989, 26 (03) : 167 - 171
[4] FUNDERBURK SJ, 1977, AM J HUM GENET, V29, P136
[5] FAMILIAL MULTIPLE EXOSTOSES - NO CHROMOSOME-8 DELETION OBSERVED
HALL, JG
WILSON, RD
KALOUSEK, D
BEAUCHAMP, R
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 22 (03): : 639 - 640
[6] LANGER LO, 1986, AM J MED GENET, V74, P1878
[7] LUDECKE HJ, 1989, HUM GENET, V82, P327

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