Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

1993 ◽  
Vol 91 (6) ◽  
Author(s):  
Rina Plattner ◽  
NylaA. Heerema ◽  
PatriciaN. Howard-Peebles ◽  
JudithH. Miles ◽  
Shirley Soukup ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Clinical Findings ◽  
Marker Chromosomes

Cryptorchidism and Marker Chromosomes: Identification of Marker Chromosomes by Fluorescence in situ Hybridization

1995 ◽  
Vol 55 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Isoji Sasagawa ◽  
Teruhiro Nakada ◽  
Manabu Ishigooka ◽  
Masahiko Tomaru ◽  
Toshihiro Sawamura ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Marker Chromosomes

Characterization of unusual marker chromosomes in testicular tumors by fluorescence in situ hybridization

1991 ◽  
Vol 56 (1) ◽  
pp. 97 ◽  
Author(s):  
Aurelia M. Meloni ◽  
Carol Berger ◽  
Robert Dobbs ◽  
Ralph White ◽  
Avery A. Sandberg
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Testicular Tumors ◽  
Marker Chromosomes

Whole Chromosome Painting and Multiplex Fluorescence In Situ Hybridization in Detecting Complex Chromosomal Aberrations in Myelodysplastic Syndromes.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4853-4853
Author(s):  
Jianyong Li ◽  
Bing Xiao ◽  
Lijuan Chen ◽  
Yu Zhu ◽  
Wei Xu ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Chromosomal Aberrations ◽  
Myelodysplastic Syndromes ◽  
Chromosome Painting ◽  
Banding Technique ◽  
Marker Chromosomes ◽  
Molecular Cytogenetic ◽  
Whole Chromosome Painting

Abstract Objective To explore the value of the technique of whole chromosome painting (WCP) and multiplex fluorescence in situ hybridization (M-FISH) in the detection of complex chromosomal aberrations (CCAs) of myelodysplastic syndromes (MDS). Methods M-FISH was used in seven MDS patients with CCAs detected by R-banding technique to refine CCAs, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH. Results In all cases, M-FISH confirmed all results of R-banding.The composition and origin of 6 kinds of marker chromosomes, 9 kinds of chromosomes with additional material undetermined and 5 kinds of derivative chromosomes undefined by CC were defined after M-FISH analysis; 4 kinds of cryptic translocations overlooked by CC were found on derivative chromosomes and previously normal appearing chromosomes. In addition, M-FISH revealed some nonrandom aberrations: aberrations involving chromosome 17 (5/7) and -5/5q- (4/7) were the two most frequent aberrations. Fluorescence flaring is a main factor leading to misinterpretations. Some misclassified and missed chromosomal aberrations by M-FISH were corrected by WCP. Conclusions M-FISH is a powerful molecular cytogenetic tool in clarification of CCAs. Complementary WCP helped us identify misclassified and missed chromosomal aberrations by M-FISH. CC in combination with molecular cytogenetic techniques M-FISH and WCP can unravel complex chromosomal aberrations more precisely.

scholarly journals Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

1993 ◽  
Vol 70 (2) ◽  
pp. 99-102 ◽  
Author(s):  
Masafumi Taniwaki ◽  
Michael R. Speicher ◽  
Christoph Lengauer ◽  
Anna Jauch ◽  
Susanne Popp ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Acute Nonlymphocytic Leukemia ◽  
Marker Chromosomes

scholarly journals Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier

2017 ◽  
Vol 07 (01) ◽  
pp. 035-039 ◽  
Author(s):  
Gabrielle Geddes ◽  
Donald Basel ◽  
Dana Schippman ◽  
John Grignon ◽  
Peter vanTuinen ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Microarray Analysis ◽  
Clinical Findings ◽  
Maternal Origin ◽  
Balanced Translocation ◽  
Translocation Carrier ◽  
Cytogenetic Studies ◽  
History Of

AbstractWe report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization

2008 ◽  
Vol 42 (3) ◽  
pp. 105-109 ◽  
Author(s):  
Denis L. Viljoen ◽  
Frank Speleman ◽  
Ronald Smart ◽  
Nadine Van Roy ◽  
Joan Toit ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Clinical Findings ◽  
Monosomy 21
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