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

[1]

BALESTRAZZI P, 1979, HUM GENET, V49, P229

[2] A LINKAGE MAP OF HUMAN-CHROMOSOME-15 WITH AN AVERAGE RESOLUTION OF 2 CM AND CONTAINING 55 POLYMORPHIC MICROSATELLITES [J].

BECKMANN, JS ;

TOMFOHRDE, J ;

BARNES, RI ;

WILLIAMS, M ;

BROUX, O ;

RICHARD, I ;

WEISSENBACH, J ;

BOWCOCK, AM .

HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2019-2030

[3]

BOUE A, 1978, PREVENTION FETAL MAL, P49

[4] PARTIAL TRISOMY FOR LONG ARM OF CHROMOSOME-16 [J].

BUCKTON, KE ;

BARR, DGD .

JOURNAL OF MEDICAL GENETICS, 1981, 18 (06) :483-483

[5]

CALVA P, 1984, ANN GENET-PARIS, V27, P122

[6] PARTIAL TRISOMY-16 AS A RESULT OF FAMILIAL 16-20 TRANSLOCATION [J].

DAVISON, EV ;

BEESLEY, JR .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (05) :384-386

[7]

DUCA-MARINESCU D, 1979, Acta Medica Auxologica (Milan), V11, P171

[8]

ERIKSSON B, 1971, ANN GENET-PARIS, V14, P281

[9]

FRANCKE U, 1973, AM J HUM GENET, V24, P189

[10]

GARAU A, 1980, HUM GENET, V53, P165

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