Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter

被引:22
作者
Trifonov, V [1 ]
Seide, J
Starke, H
Martina, P
Beensen, V
Ziegler, M
Hartmann, I
Heller, A
Nietzel, A
Claussen, U
Liehr, T
机构
[1] Inst Human Genet & Anthropol, Jena, Germany
[2] Inst Cytol & Genet, Novosibirsk, Russia
[3] Clin Children Med, Jena, Germany
关键词
D O I
10.1002/pd.595
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:427 / 430
页数:4
相关论文
共 12 条
[1]   MOLECULAR CHARACTERIZATION OF A Y-15 TRANSLOCATION SEGREGATING IN A FAMILY [J].
ALITALO, T ;
TIIHONEN, J ;
HAKOLA, P ;
DELACHAPELLE, A .
HUMAN GENETICS, 1988, 79 (01) :29-35
[2]  
Benzacken B, 2001, PRENATAL DIAG, V21, P96, DOI 10.1002/1097-0223(200102)21:2<96::AID-PD986>3.0.CO
[3]  
2-O
[4]   Subtelomeric chromosome rearrangements are detected using an innovative 12-color FISH assay (M-TEL) [J].
Brown, J ;
Saracoglu, K ;
Uhrig, S ;
Speicher, MR ;
Eils, R ;
Kearney, L .
NATURE MEDICINE, 2001, 7 (04) :497-501
[5]   Pure 6p22-pter trisomic patient: Refined FISH characterization and genotype-phenotype correlation [J].
Giardino, D ;
Finelli, P ;
Caufin, D ;
Gottardi, G ;
Lo Vasco, R ;
Turolla, L ;
Larizza, L .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (01) :36-40
[6]   AcroM fluorescent in situ hybridization analyses of marker chromosomes [J].
Langer, S ;
Fauth, C ;
Rocchi, M ;
Murken, J ;
Speicher, MR .
HUMAN GENETICS, 2001, 109 (02) :152-158
[7]   DELINEATION OF INDIVIDUAL HUMAN-CHROMOSOMES IN METAPHASE AND INTERPHASE CELLS BY INSITU SUPPRESSION HYBRIDIZATION USING RECOMBINANT DNA LIBRARIES [J].
LICHTER, P ;
CREMER, T ;
BORDEN, J ;
MANUELIDIS, L ;
WARD, DC .
HUMAN GENETICS, 1988, 80 (03) :224-234
[8]  
Liehr T, 2002, INT J MOL MED, V9, P335
[9]   Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB) [J].
Mrasek, K ;
Heller, A ;
Rubtsov, N ;
Trifonov, V ;
Starke, H ;
Rocchi, M ;
Claussen, U ;
Liehr, T .
CYTOGENETICS AND CELL GENETICS, 2001, 93 (3-4) :242-248
[10]   A novel source of highly specific chromosome painting probes for human karyotype analysis derived from primate homologues [J].
Muller, S ;
OBrien, PCM ;
FergusonSmith, MA ;
Wienberg, J .
HUMAN GENETICS, 1997, 101 (02) :149-153