9P-SYNDROME

被引：17

作者：

FUNDERBURK, SJ

SPARKES, RS

KLISAK, I

机构：

[1] UNIV CALIF LOS ANGELES,SCH MED,DEPT PSYCHIAT,PROGRAM MENTAL RETARDAT RES,LOS ANGELES,CA 90024

[2] UNIV CALIF LOS ANGELES,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90024

[3] UNIV CALIF LOS ANGELES,SCH MED,DEPT MED,LOS ANGELES,CA 90024

来源：

JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 01期

关键词：

D O I：

10.1136/jmg.16.1.75

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 13-year old boy with 9p- is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to band 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.

引用

页码：75 / 79

页数：5

共 12 条

[1]

ALFI O, 1973, ANN GENETIQUE, V16, P11

[2]

ALFI O S, 1974, Birth Defects Original Article Series, V10, P27

[3]

ALFI OS, 1976, ANN GENET-PARIS, V19, P11

[4] IMPROVED METHOD FOR MEASURING GALACTOSE-I-PHOSPHATE URIDYL TRANSFERASE ACTIVITY OF ERYTHROCYTES [J].