KABUKI SYNDROME-LIKE FEATURES IN MONOZYGOTIC TWIN BOYS WITH A PSEUDODICENTRIC CHROMOSOME-13

被引：35

作者：

LYNCH, SA ^{[1
]}

ASHCROFT, KA ^{[1
]}

ZWOLINSKI, S ^{[1
]}

CLARKE, C ^{[1
]}

BURN, J ^{[1
]}

机构：

[1] MIDDLESBROUGH GEN HOSP,CYTOGENET UNIT,MIDDLESBROUGH TS5 5AZ,CLEVELAND,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 03期

关键词：

D O I：

10.1136/jmg.32.3.227

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present monozygotic twin boys with features of Kabuki syndrome. The twins were discordant for cleft palate and coarctation of the aorta. The occurrence of Kabuki syndrome in monozygotic twins has not been previously reported and reinforces the belief that this condition has a genetic basis. Chromosomal analysis on the boys showed a pseudodicentric chromosome 13 with an inactive centromere and satellite stalks at 13q12.11: 46,XY,psu dic(13)(13pter-->13q12.11::13p12-->13q11.00:: 13q12.11-->13qter). Their phenotypically normal mother appears to carry the same pseudodicentric chromosome 13.

引用

页码：227 / 230

页数：4

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