NOVEL ISODICENTRIC CHROMOSOME-18 IN AN ABNORMAL INFANT WITH A MOSAIC KARYOTYPE [46,XY 46,XY,-18,+DIC(18)(Q12.2)]

被引：10

作者：

BRYKE, CR ^{[1
]}

LINDGREN, V ^{[1
]}

FRYBURG, JS ^{[1
]}

YANGFENG, TL ^{[1
]}

机构：

[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,333 CEDAR ST,POB 3333,NEW HAVEN,CT 06510

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 36卷 / 02期

关键词：

18q-; syndrome; dicentric chromosome; isochromosome; trisomy; 18;

D O I：

10.1002/ajmg.1320360221

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46,XY/46,XY,-18,+dic(18)(q12.2). His constellation of congenital anomalies was typical of the 18q- syndrome. The clinical and cytogenetic characteristics of this patient are reported, and the literature concerning isochromosomes of 18 is reviewed.

引用

页码：247 / 250

页数：4

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