DUPLICATION OF 16Q22-]QTER CONFIRMED BY FLUORESCENCE IN-SITU HYBRIDIZATION AND MOLECULAR ANALYSIS

被引：24

作者：

HOULSTON, RS

RENSHAW, RM

JAMES, RS

IRONTON, R

TEMPLE, IK

机构：

[1] SALISBURY DIST HOSP,WESSEX REG GENET LAB,SALISBURY SP2 8BJ,WILTS,ENGLAND

[2] SOUTHAMPTON GEN HOSP,DEPT PAEDIAT,SOUTHAMPTON S09 4XY,HANTS,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 11期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.31.11.884

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX,-15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.

引用

页码：884 / 887

页数：4

共 27 条

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