PATERNAL ORIGIN OF 11P15 DUPLICATIONS IN THE BECKWITH-WIEDEMANN SYNDROME - A NEW CASE AND REVIEW OF THE LITERATURE

被引：40

作者：

BROWN, KW

GARDNER, A

WILLIAMS, JC

MOTT, MG

MCDERMOTT, A

MAITLAND, NJ

机构：

[1] ROYAL HOSP SICK CHILDREN, DEPT ONCOL, BRISTOL, ENGLAND

[2] SOUTHMEAD GEN HOSP, SW REG CYTOGENET CTR, BRISTOL BS10 5NB, AVON, ENGLAND

来源：

CANCER GENETICS AND CYTOGENETICS | 1992年 / 58卷 / 01期

关键词：

D O I：

10.1016/0165-4608(92)90136-V

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

A boy suffering from the Beckwith-Wiedemann syndrome (BWS) was found to have partial trisomy of the short arm of chromosome 11 [46,XY,der(5)t(5;11)(p15.2;p14)]. Both his parents were phenotypically normal, but his father carried a balanced translocation between chromosomes 5 and 11 [46,XY,t(5;11)(p15.2;p14)]. DNA analysis of polymorphic markers on 11p15 confirmed the paternal origin of the duplicated material in the child. This case is the sixth report of paternal duplication of 11p15 in BWS. These results are discussed in relation to the possible role of genomic imprinting in BWS and in Wilms' tumor.

引用

页码：66 / 70

页数：5

共 33 条

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