Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia‐negative chronic myelogenous leukaemia

Starke, Heike; Raida, Martin; Trifonov, Vladimir A.; Clement, Joachim H.; Lončarević, Ivan F.; Heller, Anita; Bleck, Cordula; Nietzel, Angela; Rubtsov, N. B.; Claussen, Uwe; Liehr, Thomas

doi:10.1046/j.1365-2141.2001.02787.x

Cited by 31 publications

(15 citation statements)

References 8 publications

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“…In previous studies the accuracy of the MCB technique in the determination of chromosomal breakpoints has been proven by comparison with M-FISH (Kuechler et al, 2003), CGH (Starke et al, 2001a;Tönnies et al, 2001;Stumm et al, 2002), microdissection plus reverse painting (Starke et al, 2001a, b) and locus and/or region-specific probes (Starke et al, 2001a;Liehr et al, 2002a;Weise et al, 2002). Two sets of chromosome specific MCB probes were assembled and used simultaneously before .…”

Section: Discussionmentioning

confidence: 99%

Multitude multicolor chromosome banding (mMCB) – a comprehensive one-step multicolor FISH banding method

Weise

Heller

Starke

et al. 2003

Cytogenet Genome Res

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Multicolor chromosome banding (MCB) using one single chromosome-specific MCB probe set per experiment was previously reported as powerful tool in molecular cytogenetics for the characterization of all kinds of human marker chromosomes. However, a quick analysis of karyotypes with highly complex chromosomal changes was hampered by the problem that up to 24 MCB experiments were necessary for a comprehensive karyotype description. To overcome that limitation the 138 available region-specific microdissection-derived libraries for all human chromosomes were combined to one single probe set, called multitude MCB (mMCB). A typical fluorescence banding pattern along the human karyotype is produced, which can be evaluated either by transforming these profiles into chromosome region-specific pseudo-colors or more reliably by studying the fluorescence profiles. The mMCB probe set has been applied on chromosomes of normal male and female probands, two primary myelodysplastic syndromes and two solid tumor cell lines. Additionally, a cell line of Gorilla gorilla (GGO) studied previously by single chromosome-specific MCB was reevaluated by the mMCB method. All results were in concordance with those obtained in parallel or by other cytogenetic and molecular cytogenetic approaches indicating that mMCB is a powerful multicolor FISH banding tool for fast characterization of complex karyotypes.

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Section: Discussionmentioning

confidence: 99%

Multitude multicolor chromosome banding (mMCB) – a comprehensive one-step multicolor FISH banding method

Weise

Heller

Starke

et al. 2003

Cytogenet Genome Res

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“…Of those, only a very small subset does not consist of consecutive chromosomal material, but has complex intrachromosomal rearrangements (Fang et al, 1995;Schuffenhauer et al, 1996;Callen et al, 1999, cases A and C;Röthlisberger et al, 2000;Starke et al, 2001Starke et al, , 2003bDaniel and Malafiej, 2003, case 5).…”

Section: Complex Rearranged Ssmcmentioning

confidence: 99%

“…This review combined with the highly informative recently described molecular cytogenetic approaches Trifonov et al, 2003;Starke et al, 2001Starke et al, , 2003b should it make more feasible for the clinician to do genetic counseling of parents expecting children with de novo sSMC.…”

Section: Towards a Clinical Correlation Of Ssmcmentioning

confidence: 99%

Small supernumerary marker chromosomes (sSMC) in humans

Liehr¹,

Claussen²,

Starke³

2004

Cytogenet Genome Res

260

277

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Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(22)-, i(12p)- (Pallister Killian syndrome) and inv dup(22)- (cat-eye) syndromes. However, most of the remaining sSMC including minute-, ring-, inverted-duplication- as well as complex-rearranged chromosomes, have not yet been correlated with clinical syndromes, mostly due to problems in their comprehensive characterization. Here we present an overview of sSMC, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence. The review also discusses the frequency of sSMC in prenatal, postnatal, and clinical cases, their chromosomal origin and their association with uniparental disomy. A short review of the up-to-date approaches available for sSMC characterization is included. Clinically relevant correlations concerning the presence of a specific sSMC and its phenotypic consequences should become available soon.

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“…The FISH-banding technique (9) multitude multicolor banding (mMCB) was chosen as it has proven its ability and reliability in previous studies and is the only one which has been systematically adjusted with other FISH-techniques (17)(18)(19)(20)(21)(22)(23)(24)(25). However, as all (multicolor) FISH techniques based on whole or partial chromosome painting probes, also mMCB is not completely reliable concerning the subtelomeric and subcentromeric chromosomal regions.…”

Section: Discussionmentioning

confidence: 99%

Novel cryptic chromosomal rearrangements detected in acute lymphoblastic leukemia detected by application of new multicolor fluorescent in situ hybridization approaches

Karst

Groß²,

Haase³

et al. 2006

Int J Oncol

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Abstract. Routine cytogenetic analysis provides important information on diagnostic and prognostic relevance for hematological malignancies. However, it is often difficult to obtain good karyotypes, especially of cells from cases with acute lymphoblastic leukemia (ALL) because of poor morphology and spreading. Thus, detailed karyotyping can be hampered and even in case of a 'normal karyotype' according to banding cytogenetics doubts remain if the result is reliable. In order to address this problem a series of 37 ALL cases without any detectable numerical or structural chromosomal defects was selected and studied by two recently developed multicolor fluorescence in situ hybridization (FISH) approaches: 1) multitude multicolor banding (mMCB) is a FISH-banding technique, which allows the analyses of inter-and intra-chromosomal rearrangements of the whole human karyotype in one single experiment; 2) chromosome-specific subcentromere/subtelomere-specific multicolor (subCTM-)FISH applies locus-specific subtelomeric and subcentromic probes and enables the characterization of the subtelomeric and peri-centric regions of the chromosomes, not analyzable by other FISHapproaches. Thus, we detected the following recurrent cryptic chromosomal aberrations: del(12)(pter) [8 cases], del(9)(qter) [3 cases], and del(11)(pter) [2 cases]. Moreover, cryptic changes in additional nine subtelomeric and in two subcentromeric regions were observed one time, each. In summary, mMCB and subCTM were proven to be powerful methods in the screening for new cryptic chromosomal aberrations, which considerably increased the accuracy of cytogenetic diagnosis.

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Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia‐negative chronic myelogenous leukaemia

Cited by 31 publications

References 8 publications

Multitude multicolor chromosome banding (mMCB) – a comprehensive one-step multicolor FISH banding method

Multitude multicolor chromosome banding (mMCB) – a comprehensive one-step multicolor FISH banding method

Small supernumerary marker chromosomes (sSMC) in humans

Novel cryptic chromosomal rearrangements detected in acute lymphoblastic leukemia detected by application of new multicolor fluorescent in situ hybridization approaches

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