The clinical application of spectral karyotyping (SKY<sup>™</sup>) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

Yaron, Yuval; Carmon, Erez; Goldstein, Myriam; Voskoboinik, Nadia; Ochshorn, Yifat; Gelman-Kohan, Z; Orr-Urtreger, Avi

doi:10.1002/pd.521

Cited by 11 publications

(7 citation statements)

References 17 publications

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“…The data presented here and in the literature do not support the use of spectral karyotyping as a primary diagnostic tool in prenatal situations, as the risk of misdiagnosis is still a major concern [7,8]. Yaron et al tested the application of spectral karyotyping for characterizing de novo small supernumerary marker chromosomes (sSMCs) during prenatal diagnosis [7].…”

Section: Discussionmentioning

confidence: 92%

“…Yaron et al tested the application of spectral karyotyping for characterizing de novo small supernumerary marker chromosomes (sSMCs) during prenatal diagnosis [7]. In this series, the evaluation of ring chromosomes and non-satellited SMCs benefited greatly from the additional analysis; however, spectral karyotyping did not provide further information for characterization in two cases with bisatellited SMCs [7]. Besides, spectral karyotyping results, unlike array CGH, often need to be refined by the use of FISH probes.…”

Section: Discussionmentioning

confidence: 99%

“…This is especially true in cases involving de novo small supernumerary marker chromosomes (sSMCs) and derivative chromosomes [3-6]. Such definitive karyotyping is important in assessing risk for phenotypic abnormalities, especially for prenatal situations [7,8]. The ability to identify the origin of additional genetic materials is very important for providing information to couples in regard to the potential phenotypic and/or developmental effect of a de novo rearrangement.…”

Section: Introductionmentioning

confidence: 99%

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Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Anguiano

Wang

et al. 2012

Mol Cytogenet

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Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal) submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs) or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88%) of the 179 clinical cases; the identification rate was slightly higher for postnatal (89%) compared to prenatal (84%) cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (< 10%), or contained very little euchromatic material. Supplemental FISH analysis confirmed the spectral karyotyping results in all 158 cases. Clinical indications for prenatal cases were mainly for marker identification after amniocentesis. For postnatal cases, the primary indications were developmental delay and multiple congenital anomalies (MCA). The most frequently encountered markers were of chromosome 15 origin for satellited chromosomes, and chromosomes 2 and 16 for non-satellited chromosomes. We were able to obtain pertinent clinical information for 47% (41/88) of cases with an identified abnormal chromosome. We conclude that spectral karyotyping is sufficiently reliable for use and provides a valuable diagnostic tool for establishing the origin of supernumerary marker chromosomes or derivative chromosomal material that cannot be identified with standard cytogenetic techniques.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Anguiano

Wang

et al. 2012

Mol Cytogenet

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“…SKY analysis permitted the classification of marker chromosomes and chromosome rearrangements and the results were confirmed by using locus/gene-specific probes with FISH analysis (Haddad et al, 1998;Huang et al, 1998;Ning et al, 1999;Yaron et al, 2003;Guanciali-Franchi et al, 2004;Tabet et al, 2004). However, in two cases of small bisatellited chromosomes, SKY was noncontributory (Yaron et al, 2003). Nevertheless, often one can gain suggestions from which chromosomes ESACs might be derived by using the SKY analysis.…”

Section: Applications Of Chromosome Analysis Using Sky In Clinical Gementioning

confidence: 99%

Spectral karyotyping of human, mouse, rat and ape chromosomes – applications for genetic diagnostics and research

Zschieschang

O’Brien

Helmrich

et al. 2006

Cytogenet Genome Res

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Spectral karyotyping (SKY) is a widely used methodology to identify genetic aberrations. Multicolor fluorescence in situ hybridization using chromosome painting probes in individual colors for all metaphase chromosomes at once is combined with a unique spectral measurement and analysis system to automatically classify normal and aberrant chromosomes. Based on countless studies and investigations in many laboratories worldwide, numerous new chromosome translocations and other aberrations have been identified in clinical and tumor cytogenetics. Thus, gene identification studies have been facilitated resulting in the dissection of tumor development and progression. For example, different translocation partners of the TEL/ETV6 transcription factor that is specially required for hematopoiesis within the bone marrow were identified. Also, the correct classification of complex karyotypes of solid tumors supports the prognostication of cancer patients. Important accomplishments for patients with genetic diseases, leukemias and lymphomas, mesenchymal tumors and solid cancers are summarized and exemplified. Furthermore, studies of disease mechanisms such as centromeric DNA breakage, DNA double strand break repair, telomere shortening and radiation-induced neoplastic transformation have been accompanied by SKY analyses. Besides the hybridization of human chromosomes, mouse karyotyping has also contributed to the comprehensive characterization of mouse models of human disease and for gene therapy studies.

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“…In order to establish the clinical significance of such abnormalities by chromosome‐specific content, standard banding techniques has been combined with fluorescence in situ hybridisation (FISH) or other molecular approaches, resolving many chromosomal aberrations [Calabrese et al, 1994; Crolla et al, 1995; Schwartz et al, 1997; Crolla, 1998]. Quite recently, new techniques such as spectral karyotyping (SKY) and multiplex‐FISH (M‐FISH), based on the hybridisation of 24 chromosome painting or centromeric probes labelled with different combination of five fluorochromes, have allowed the precise and rapid classification of chromosomal aberrations on a few series of patients, as well as in many single cases [Schrock et al, 1996; Speicher et al, 1996; Haddad et al, 1998; Uhrig et al, 1999; Nietzel et al, 2001; Yaron et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Guanciali-Franchi

Calabrese

Morizio

et al. 2004

American J of Med Genetics Pt A

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Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities. In some cases their characterisation, using standard cytogenetic techniques and fluorescence in situ hybridization (FISH), is difficult and time consuming, where a fast and accurate identification is essential, especially when such chromosomal aberrations are found in prenatal diagnosis. A recent molecular technique, spectral karyotyping (SKY), based on the spectral signature of 24 chromosome-specific painting probes labelled with different combinations of five fluorochromes, allows the simultaneous visualisation of all human chromosomes in different colours. We used SKY analysis on 14 cases with rare ESACs or cryptic unbalanced rearrangements found at pre- or postnatal diagnosis. SKY analysis permitted the classification of chromosome rearrangements in all 14 cases analysed in combination with FISH analysis.

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The clinical application of spectral karyotyping (SKY^™) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

Abstract: While SKY may be a valuable tool in some cases, especially nonsatellited and ring ESACs, it does have limitations and should be used judiciously in conjunction with other cytogenetic techniques.

Cited by 11 publications

References 17 publications

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Spectral karyotyping of human, mouse, rat and ape chromosomes – applications for genetic diagnostics and research

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

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The clinical application of spectral karyotyping (SKY™) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)

Abstract: While SKY may be a valuable tool in some cases, especially nonsatellited and ring ESACs, it does have limitations and should be used judiciously in conjunction with other cytogenetic techniques.

Cited by 11 publications

References 17 publications

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Spectral karyotyping of human, mouse, rat and ape chromosomes – applications for genetic diagnostics and research

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

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Product

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The clinical application of spectral karyotyping (SKY^™) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)