Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis
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 consu...
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| Published in | American journal of medical genetics. Part A Vol. 127A; no. 2; pp. 144 - 148 |
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| Main Authors | , , , , , , , , , , , , , , |
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| Language | English |
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| Abstract | 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. © 2004 Wiley‐Liss, Inc. |
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| AbstractList | 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. © 2004 Wiley‐Liss, Inc. 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. Abstract 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. © 2004 Wiley‐Liss, Inc. |
| Author | Rinaldi, Maria M. Cristini, Luciano Guanciali-Franchi, Paolo Zatterale, Adriana Stuppia, Liborio Simonelli, Andrea Calabrese, Giuseppe Fantasia, Donatella Sabatino, Giuseppe Lonardo, Fortunato Colosimo, Alessia Turci, Alessandra Morizio, Elisena Palka, Giandomenico Laganà, Carmelo |
| Author_xml | – sequence: 1 givenname: Paolo surname: Guanciali-Franchi fullname: Guanciali-Franchi, Paolo email: paolo.guanciali@tin.it organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Servizio di Genetica Medica, Ospedale S. Spirito, Pescara, Italy – sequence: 2 givenname: Giuseppe surname: Calabrese fullname: Calabrese, Giuseppe organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Servizio di Genetica Medica, Ospedale S. Spirito, Pescara, Italy – sequence: 3 givenname: Elisena surname: Morizio fullname: Morizio, Elisena organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Servizio di Genetica Medica, Ospedale S. Spirito, Pescara, Italy – sequence: 4 givenname: Donatella surname: Fantasia fullname: Fantasia, Donatella organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Servizio di Genetica Medica, Ospedale S. Spirito, Pescara, Italy – sequence: 5 givenname: Alessia surname: Colosimo fullname: Colosimo, Alessia organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, Italy – sequence: 6 givenname: Maria M. surname: Rinaldi fullname: Rinaldi, Maria M. organization: Genetica Medica, Ospedale Cardarelli, Napoli, Italy – sequence: 7 givenname: Luciano surname: Cristini fullname: Cristini, Luciano organization: Servizio di Citogenetica, Ospedale di Frosinone, Frosinone, Italy – sequence: 8 givenname: Andrea surname: Simonelli fullname: Simonelli, Andrea organization: Servizio di Citogenetica, Ospedale di Frosinone, Frosinone, Italy – sequence: 9 givenname: Fortunato surname: Lonardo fullname: Lonardo, Fortunato organization: Genetica Medica, Ospedale di Benevento, Benevento, Italy – sequence: 10 givenname: Alessandra surname: Turci fullname: Turci, Alessandra organization: Citogenetica, Ospedale di Ravenna, Ravenna, Italy – sequence: 11 givenname: Adriana surname: Zatterale fullname: Zatterale, Adriana organization: Servizio di Citogenetica ASL-NA1, Napoli, Italy – sequence: 12 givenname: Carmelo surname: Laganà fullname: Laganà, Carmelo organization: U. O. di Genetica Medica, Ospedale di Reggio Calabria, Reggio Calabria, Italy – sequence: 13 givenname: Liborio surname: Stuppia fullname: Stuppia, Liborio organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Istituto di Citomorfologia Normale e Patologica, CNR, Chieti, Italy – sequence: 14 givenname: Giuseppe surname: Sabatino fullname: Sabatino, Giuseppe organization: Dipartimento di Pediatria, Università di Chieti, Chieti, Italy – sequence: 15 givenname: Giandomenico surname: Palka fullname: Palka, Giandomenico organization: Dipartimento di Scienze Biomediche/Sez. di Genetica Medica, Università di Chieti, Chieti, and Servizio di Genetica Medica, Ospedale S. Spirito, Pescara, Italy |
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| Snippet | Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities. In some... Abstract Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities.... |
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| SubjectTerms | Chromosome Aberrations - classification Cytogenetic Analysis Female Humans In Situ Hybridization, Fluorescence - methods Italy marker chromosomes Pregnancy Prenatal Diagnosis prenatal/postnatal diagnosis spectral karyotyping Spectral Karyotyping - methods |
| Title | Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis |
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