Cryptic Translocation Identification in Human and Mouse using Several Telomeric Multiplex FISH (TM-FISH) Strategies

Henegariu, O; Artan, S; Greally, J M; Xn, Chen; Korenberg, J R; Vance, G H; Stubbs, L; Bray-Ward, P; Ward, D C

doi:10.2172/15004910

Cited by 4 publications

(6 citation statements)

References 7 publications

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“…rearrangements. Telomeric multiplex FISH (TM-FISH) uses a set of commercially available telomeric probes, based on the secondgeneration screening set [Henegariu et al, 2001]. Three different combinatorial labeling strategies were used to simultaneously detect all subtelomeric regions on a single slide.…”

Section: Multicolor Fishmentioning

confidence: 99%

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

2005

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In recent years, subtelomeric rearrangements, e.g., chromosome deletions or duplications too small to be detected by conventional cytogenetic analysis, have emerged as a significant cause of both idiopathic and familial mental retardation. As mental retardation is a common disorder, many patients need to be tested on a routine basis. In this review, we will discuss the different methods that have been applied in laboratories worldwide, including multiprobe fluorescence in situ hybridization (FISH), multiallelic marker analysis, multiplex amplifiable probe hybridization (MAPH), multiplex ligation-dependent probe amplification (MLPA), quantitative real-time PCR, comparative genomic hybridization (CGH), and multicolor FISH, including spectral karyotyping (SKY), subtelomeric combined binary ratio labeling FISH (S-COBRA FISH), multiplex FISH telomere integrity assay (M-TEL), telomeric multiplex FISH (TM-FISH), and primed in situ labeling (PRINS).

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Section: Multicolor Fishmentioning

confidence: 99%

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

2005

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“…In comparison with other multicolor-FISH based subtelomere screening methods (Granzow et al 2000;Brown et al 2001;Henegariu et al 2001) this new approach provides some advantages as all the features listed in the introduction are fulfilled. In addition, this new test also allows the detection of other types of subtelomeric rearrangements, such as telomere-close insertions and deletions.…”

Section: Discussionmentioning

confidence: 99%

“…Already used on a large scale are multicolor karyotyping technologies such as multiplex-FISH (M-FISH; Speicher et al 1996), spectral karyotyping (SKY; Schröck et al 1996), combined binary ratio labeling (COBRA; Tanke et al 1999), and colorchanging karyotyping (CCK; Henegariu et al 2001). These techniques have already proven their ability to detect some cryptic subtelomeric rearrangements (Schröck et al 1997;Uhrig et al 1999;Bezrookove et al 2000).…”

Section: Introductionmentioning

confidence: 99%

“…This type of approach uses combinatorial probe labeling and hence reduces the number of necessary hybridizations. So far, mixtures have been developed that allow the visualization of the subtelomeric regions of 8, 12 or even 24 chromosomes within 3, 2 or one hybridization(s), respectively (Granzow et al 2000;Brown et al 2001;Henegariu et al 2001).…”

Section: Introductionmentioning

confidence: 99%

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A new strategy for the detection of subtelomeric rearrangements

Fauth¹,

Zhang

Harabacz³

et al. 2001

Hum Genet

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We present a new strategy for the detection of subtelomeric rearrangements. This approach is based on two hybridizations with different probe sets. The first set consists of microdissected subtelomeric probes (each 5-10 megabases in size) labeled combinatorially employing 7 different fluorochromes. With this set, subtelomeric interchromosomal exchanges can be detected in a 24-color experiment. The second set comprises a second generation of subtelomeric PAC-, P1- and BAC-clones. Probes for p- and q-arms are labeled with two different colors. This second set detects small deletions; in addition it provides regional information, so that translocated material identified by the first probe set can be assigned to the p- or q-arm of a chromosome. The test has been evaluated in a blind study on a series of subtle translocations and deletions.

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“…The resolution of molecular cytogenetic screening methods such as 24-color fluorescence in situ hybridization (FISH; Schröck et al 1996;Speicher et al 1996) is limited due to the fact that telomere regions are often poorly represented in whole chromosome painting probes Lee et al 2001;. Recently developed methods, such as multiprobe FISH and multiplex FISH telomere integrity assays (M-TEL and TM-FISH) have proved to be very sensitive for the detection of cryptic chromosome aberrations (Brown et al 2000Granzow et al 2000;Henegariu et al 2001;Knight et al 1997Knight et al , 1999Ning et al 1996;Rossi et al 2001). All these techniques are based on the use of cosmid, P1, P1-derived artificial chromosome (PAC), bacterial artificial chromosome (BAC) and/or yeast artificial chromosome (YAC) clones specific for all human subtelomeric chromosome regions Ning et al 1996;Vocero-Akbani et al 1996).…”

Section: Introductionmentioning

confidence: 99%

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Popp¹,

Schulze²,

Granzow³

et al. 2002

Hum Genet

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Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.

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Cryptic Translocation Identification in Human and Mouse using Several Telomeric Multiplex FISH (TM-FISH) Strategies

Cited by 4 publications

References 7 publications

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods

A new strategy for the detection of subtelomeric rearrangements

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

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