PALLISTER-KILLIAN SYNDROME - CHARACTERIZATION OF THE ISOCHROMOSOME-12P BY FLUORESCENT INSITU HYBRIDIZATION

被引：47

作者：

SPELEMAN, F

LEROY, JG

VANROY, N

DEPAEPE, A

SUIJKERBUIJK, R

BRUNNER, H

LOOIJENGA, L

VERSCHRAEGENSPAE, MR

ORYE, E

机构：

[1] DR DANIEL DEN HOED CANC CTR,EXPTL PATHOONCOL LAB,ROTTERDAM,NETHERLANDS

[2] CATHOLIC UNIV NIJMEGEN,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 03期

关键词：

TETRASOMY-12P; CHROMOSOME-12; BIOTIN; DIGOXIGENIN; FIBROBLAST CULTURES;

D O I：

10.1002/ajmg.1320410321

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

引用

页码：381 / 387

页数：7

共 32 条

[1] DETECTION OF THE PHILADELPHIA-CHROMOSOME IN INTERPHASE NUCLEI [J].

ARNOLDUS, EPJ ;

WIEGANT, J ;

NOORDERMEER, IA ;

WESSELS, JW ;

BEVERSTOCK, GC ;

GROSVELD, GC ;

VANDERPLOEG, M ;

RAAP, AK .

CYTOGENETICS AND CELL GENETICS, 1990, 54 (3-4) :108-&

[2]

Buyse M L, 1983, J Clin Dysmorphol, V1, P2

[3] DETECTION OF CHROMOSOME-ABERRATIONS IN THE HUMAN INTERPHASE NUCLEUS BY VISUALIZATION OF SPECIFIC TARGET DNAS WITH RADIOACTIVE AND NONRADIOACTIVE INSITU HYBRIDIZATION TECHNIQUES - DIAGNOSIS OF TRISOMY-18 WITH PROBE L1.84 [J].

CREMER, T ;

LANDEGENT, J ;

BRUCKNER, A ;

SCHOLL, HP ;

SCHARDIN, M ;

HAGER, HD ;

DEVILEE, P ;

PEARSON, P ;

VANDERPLOEG, M .

HUMAN GENETICS, 1986, 74 (04) :346-352

[4]

DEVILEE P, 1988, CANCER RES, V48, P5825

[5]

GILGENKRANTZ S, 1985, CLIN GENET, V28, P495

[6] HUMAN VONWILLEBRAND-FACTOR (VWF) - ISOLATION OF COMPLEMENTARY-DNA (CDNA) CLONES AND CHROMOSOMAL LOCALIZATION [J].

GINSBURG, D ;

HANDIN, RI ;

BONTHRON, DT ;

DONLON, TA ;

BRUNS, GAP ;

LATT, SA ;

ORKIN, SH .

SCIENCE, 1985, 228 (4706) :1401-1406

[7] INSITU HYBRIDIZATION AS A TOOL TO STUDY NUMERICAL CHROMOSOME-ABERRATIONS IN SOLID BLADDER-TUMORS [J].

HOPMAN, AHN ;

RAMAEKERS, FCS ;

RAAP, AK ;

BECK, JLM ;

DEVILEE, P ;

VANDERPLOEG, M ;

VOOIJS, GP .

HISTOCHEMISTRY, 1988, 89 (04) :307-316

[8]

HUNTER A G W, 1986, American Journal of Human Genetics, V39, pA117

[9]

HUNTER AGW, 1985, CLIN GENET, V28, P47

[10]

JAUCH A, 1990, HUM GENET, V85, P145

← 1 2 3 4 →