Prenatal diagnosis of partial tetrasomy 14: a case study

被引：7

作者：

George, AM ^{[1
]}

Hallam, L

Oei, P

McGaughran, J

机构：

[1] Auckland Hosp, Dept Cytogenet, LabPlus, Auckland, New Zealand

[2] Auckland Hosp, Dept Pathol, LabPlus, Auckland, New Zealand

[3] Auckland Hosp, No Reg Genet Serv, Auckland, New Zealand

来源：

PRENATAL DIAGNOSIS | 2002年 / 22卷 / 02期

关键词：

tetrasomy; 14; marker chromosome;

D O I：

10.1002/pd.258

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY, +mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright (C) 2002 John Wiley Sons, Ltd.

引用

页码：127 / 130

页数：4

共 31 条

[1] 50 PROBANDS WITH EXTRA STRUCTURALLY ABNORMAL CHROMOSOMES CHARACTERIZED BY FLUORESCENCE IN-SITU HYBRIDIZATION [J].

BLENNOW, E ;

NIELSEN, KB ;

TELENIUS, H ;

CARTER, NP ;

KRISTOFFERSSON, U ;

HOLMBERG, E ;

GILLBERG, C ;

NORDENSKJOLD, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (01) :85-94

[2] A 10-YEAR SURVEY, 1980-1990, OF PRENATALLY DIAGNOSED SMALL SUPERNUMERARY MARKER CHROMOSOMES, IDENTIFIED BY FISH ANALYSIS - OUTCOME AND FOLLOW-UP OF 14 CASES DIAGNOSED IN A SERIES OF 12 699 PRENATAL SAMPLES [J].

BRONDUMNIELSEN, K ;

MIKKELSEN, M .

PRENATAL DIAGNOSIS, 1995, 15 (07) :615-619

[3] 44 PROBANDS WITH AN ADDITIONAL MARKER CHROMOSOME [J].

BUCKTON, KE ;

SPOWART, G ;

NEWTON, MS ;

EVANS, HJ .

HUMAN GENETICS, 1985, 69 (04) :353-370

[4]

COCO R, 1977, ANN GENET-PARIS, V20, P41

[5]

Cotter PD, 1997, AM J MED GENET, V70, P74, DOI 10.1002/(SICI)1096-8628(19970502)70:1<74::AID-AJMG14>3.0.CO

[6]

2-U

[7]

Crolla JA, 1998, AM J MED GENET, V75, P367, DOI 10.1002/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO

[8]

2-N

[9]

Crolla JA, 1998, AM J MED GENET, V75, P355, DOI 10.1002/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO

[10]

2-P

← 1 2 3 4 →