INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITH ABSENT PULMONARY VALVE

被引：17

作者：

HORIGOME, H

TAKANO, T

HIRANO, T

KAJIMA, T

OHTANI, S

机构：

[1] MITO SAISEIKAI GEN HOSP,DEPT CARDIOVASC SURG,MITO,IBARAKI,JAPAN

[2] TOKYO METROPOLITAN INST MED SCI,DEPT CLIN GENET,BUNKYO KU,TOKYO 113,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 04期

关键词：

CHROMOSOME-6Q DELETION; MULTIPLE CONGENITAL ANOMALIES; MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320380421

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a newborn infant with a deletion of 6q and absent pulmonary valve. His chromosome constitution was 46,XY,del (6) (q15q21). To our knowledge this is the first case with such combination. Some of his clinical features were found in common in 2 previous 6q- cases with the same breakpoints.

引用

页码：608 / 611

页数：4

共 14 条

[1]

COTE GB, 1981, ANN GENET-PARIS, V24, P170

[2]

GLOVER G, 1988, CLIN GENET, V33, P308

[3] EXCLUSION OF HLA LOCUS FROM A LARGE PORTION OF LONG ARM OF CHROMOSOME-6 [J].