MONOSOMY 18Q12.1-]21.1 - A RECOGNIZABLE ANEUPLOIDY SYNDROME - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE

被引：15

作者：

KRASIKOV, N ^{[1
]}

THOMPSON, K ^{[1
]}

SEKHON, GS ^{[1
]}

机构：

[1] UNIV WISCONSIN,DEPT GENET,MADISON,WI 53706

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 03期

关键词：

INTERSTITIAL DELETION-18Q; MONOSOMY-18Q; SYNDROME;

D O I：

10.1002/ajmg.1320430306

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands.

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页码：531 / 534

页数：4

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