TETRASOMY OF THE SHORT ARM OF CHROMOSOME-9 - PRENATAL-DIAGNOSIS AND FURTHER DELINEATION OF THE PHENOTYPE

被引：30

作者：

SCHAEFER, GB

DOMEK, DB

MORGAN, MA

MUNEER, RS

JOHNSON, SF

机构：

[1] UNIV OKLAHOMA,HLTH SCI CTR,DEPT OBSTET & GYNECOL,DIV MATERNAL FETAL MED,OKLAHOMA CITY,OK 73190

[2] UNIV OKLAHOMA,HLTH SCI CTR,DEPT PATHOL,OKLAHOMA CITY,OK 73190

[3] UNIV OKLAHOMA,HLTH SCI CTR,DEPT PEDIAT,DIV GENET ENDOCRINOL & METAB,OKLAHOMA CITY,OK 73190

来源：

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

关键词：

PARTIAL TETRASOMY-9; ISOCHROMOSOME; MULTIPLE CONGENITAL ANOMALIES;

D O I：

10.1002/ajmg.1320380422

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a modal number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47,XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.

引用

页码：612 / 615

页数：4

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