DIGEORGE ANOMALY ASSOCIATED WITH 10P DELETION

被引：53

作者：

MONACO, G

PIGNATA, C

ROSSI, E

MASCELLARO, O

COCOZZA, S

CICCIMARRA, F

机构：

[1] UNIV REGGIO CALABRIA,DEPT PEDIAT,REGGIO CALABRIA,ITALY

[2] NAPLES UNIV,DEPT CELLULAR & MOLEC BIOL & PATHOL,CNR,CEOS,I-80138 NAPLES,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

CHROMOSOME-10; DEL; 10P; DGA;

D O I：

10.1002/ajmg.1320390220

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

DiGeorge anomaly (DGA) represents a heterogeneous entity, which is often sporadic, although familial cases and the association with monosomy 22q11 have been reported. Recently, a few patients with 10p deletion syndrome and immunological and other laboratory findings similar to DGA have been described. We report on an additional case of partial DGA associated with 10p deletion.

引用

页码：215 / 216

页数：2

共 6 条

[1] ERRORS OF MORPHOGENESIS AND INBORN-ERRORS OF IMMUNITY 20 YEARS AFTER THE DISCOVERY OF DIGEORGE ANOMALY [J].