A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH)

Nietzel, Angela; Rocchi, Mariano; Starke, Heike; Heller, Anita; Fiedler, Wolfgang; Włodarska, Iwona; Lončarević, Ivan F.; Beensen, Volkmar; Claussen, Uwe; Liehr, Thomas

doi:10.1007/s004390100459

Cited by 149 publications

(113 citation statements)

References 24 publications

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“…Centromere-specific multicolor FISH (cenM-FISH) was performed as described by Nietzel et al (32), acrocentric specific multicolor FISH (acrocenM-FISH) as described by Trifonov et al (33) and multicolor FISH with whole chromosome paint (wcp) probes was used to determine the origin of the sSMC (1,34). These results were confirmed by FISH with centromere-specific probes.…”

Section: Methodsmentioning

confidence: 97%

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization

Manolakos¹,

Kefalas²,

Neroutsou³

et al. 2010

Mol Med Rep

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Abstract. Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the limitations in their identification, have presented a diagnostic problem. In order to determine the origin of sSMCs, we used a variety of fluorescence in situ hybridization (FISH) methods, including centromere-specific multicolor FISH, acrocentric specific multicolor FISH, subcentromere-specific multicolor FISH and multicolor FISH with whole chromosome paint probes. Moreover, uniparental disomy testing was in all cases attempted. From a total of 28,000 pre-natal samples from four diagnostic genetics laboratories in Greece, 23 (0.082%) supernumerary marker chromosomes were detected. The mean maternal age was 36.2 years (range 27-43) and the mean gestational age at which amniocentesis was performed was 18.5 weeks (range 16-23). Eighteen markers were de novo and 5 markers were inherited. Molecular cytogenetic methods were applied to determine the chromosomal origin and composition of the sSMC. In total, 17 markers were derived from acrocentric chromosomes (14, 15, 21 and 22) and 6 markers were non-acrocentric, derived from chromosomes 9, 16, 18, 20 and Y. Uniparental disomy was not detected in any of the cases studied. With regard to pregnancy outcome, 13 pregnancies resulted in normal healthy neonates, while 10 pregnancies were terminated due to ultrasound abnormalities. A total of 23 marker chromosomes from 28,000 pre-natal samples (0.082%) were identified. Molecular cytogenetic techniques provided valuable information on the chromosomal origin and composition of all the sSMCs. Especially in cases with normal ultrasound, the FISH results rendered genetic counseling possible in a category of cases previously considered a diagnostic problem. Abnormal outcome was observed in 10 cases (43,5%), 7 of which showed abnormal ultrasound findings. New technologies, such as array-comparative genomic hybridization, should be used in future genotype-phenotype correlation studies, although the high mosaicism rate poses a problem. IntroductionSmall supernumerary marker chromosomes (sSMcs) are structurally abnormal chromosomes, equal in size or smaller than chromosome 20, which cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques (1). These chromosomes are detected in 0.04% of newborn children, whereas in developmentally retarded patients the rate is 0.22% (1-3). sSMCs are also present in 0.08% of unselected pre-natal cases and in 0.20% of pre-natal cases with ultrasound abnormalities (2). The large variety of sSMCs, as well as the limitations in their cytogenetic identification, have presented a diagnostic problem in their interpretation. In general, the risk for an abnormal phenotype is approximately 13%, varying from 7% when de novo sSMCs derived from chromosomes 13, 14, 21 and 22 are encountered, to 28% for non-acrocentric

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Section: Methodsmentioning

confidence: 97%

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization

Manolakos¹,

Kefalas²,

Neroutsou³

et al. 2010

Mol Med Rep

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“…We recently proposed a strategy for how to proceed if a sSMC is detected (Liehr et al 2003(Liehr et al ,2004b. According to that, apart from microdissection and reverse painting, the most straightforward way to determine an sSMC's origin is the cenM-FISH approach (Nietzel et al 2001). For characterization of the content and structure of the sSMC, the subcenM-FISH approach should be applied, as introduced and applied in ‫ف‬ 30 cases with sSMCs in Starke et al (2003).…”

mentioning

confidence: 99%

Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

Mrasek

Starke

Liehr

2005

J Histochem Cytochem.

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Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX, + r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.

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“…There are diferent applications which used FISH-based methods like reverse-FISH [27], ibre-FISH [28,29], M-FISH (multicolor FISH) [30], SKY (spectral karyotyping FISH) [31], low-FISH [32], Q-FISH (quantitative FISH) [33], COBRA-FISH (combined binary ratio labelling FISH) [34], cenM-FISH (centromere-speciic M-FISH) [35], podFISH (parental origin determination FISH) [36] and heterochromatin-M-FISH [37]. The most advanced FISH-based approaches included COBRA-FISH, M-FISH and SKY.…”

Section: Fish Developmentmentioning

confidence: 99%

The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

Kalkan¹

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Chromosomal analysis is an increasingly important diagnostic procedure in numerous areas of clinical medicine that includes haematology, perinatology or obstetrics. Chromosomal disorders are viewed as a major category of genetic diseases, and sometimes the identiication of abnormal chromosomes is not easily applicable. Just like the identiication of the marker chromosome or the identiication of the complex karyotypes is important in clinics for the evaluation of the patient prognosis as well as the treatment response, needless to say; luorescence in situ hybridization (FISH) is the most suitable and rapid method in the above-mentioned situations. It gives chance to the rapid analysis of chromosomal aneuploidies in dividing and non-dividing cells. In this chapter, we will discuss the general principles of the chromosomal abnormalities and the molecular cytogenetic techniques that can help the identiication of presence or absence of a particular DNA sequence or the evaluation of the number of organization of a chromosome or chromosomal region.

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A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH)

Cited by 149 publications

References 24 publications

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization

Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

The Use of Molecular Cytogenetic Techniques for the Identification of Chromosomal Abnormalities

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