Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory
<p>Abstract</p> <p>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 marke...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-01-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://www.molecularcytogenetics.org/content/5/1/3 |
| _version_ | 1818582029497794560 |
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| author | Anguiano Arturo Wang Boris T Wang Shirong R Boyar Fatih Z Mahon Loretta W El Naggar Mohamed M Kohn Peter H Haddadin Mary H Sulcova Vladimira Sbeiti Adam H Ayad Mervat S White Beverly J Strom Charles M |
| author_facet | Anguiano Arturo Wang Boris T Wang Shirong R Boyar Fatih Z Mahon Loretta W El Naggar Mohamed M Kohn Peter H Haddadin Mary H Sulcova Vladimira Sbeiti Adam H Ayad Mervat S White Beverly J Strom Charles M |
| author_sort | Anguiano Arturo |
| collection | DOAJ |
| description | <p>Abstract</p> <p>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.</p> |
| first_indexed | 2024-12-16T07:42:53Z |
| format | Article |
| id | doaj.art-500ca9cd06054f4aabfa88f8b93ea33f |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-16T07:42:53Z |
| publishDate | 2012-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-500ca9cd06054f4aabfa88f8b93ea33f2022-12-21T22:39:02ZengBMCMolecular Cytogenetics1755-81662012-01-0151310.1186/1755-8166-5-3Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratoryAnguiano ArturoWang Boris TWang Shirong RBoyar Fatih ZMahon Loretta WEl Naggar Mohamed MKohn Peter HHaddadin Mary HSulcova VladimiraSbeiti Adam HAyad Mervat SWhite Beverly JStrom Charles M<p>Abstract</p> <p>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.</p>http://www.molecularcytogenetics.org/content/5/1/3Spectral KaryotypingMarker ChromosomeFISHarray CGH |
| spellingShingle | Anguiano Arturo Wang Boris T Wang Shirong R Boyar Fatih Z Mahon Loretta W El Naggar Mohamed M Kohn Peter H Haddadin Mary H Sulcova Vladimira Sbeiti Adam H Ayad Mervat S White Beverly J Strom Charles M Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory Molecular Cytogenetics Spectral Karyotyping Marker Chromosome FISH array CGH |
| title | Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| title_full | Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| title_fullStr | Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| title_full_unstemmed | Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| title_short | Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| title_sort | spectral karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory |
| topic | Spectral Karyotyping Marker Chromosome FISH array CGH |
| url | http://www.molecularcytogenetics.org/content/5/1/3 |
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