Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray
Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusio...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Tuteja, Moni [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Anmerkung: |
© Indian Academy of Pediatrics 2017 |
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| Übergeordnetes Werk: |
Enthalten in: Indian Pediatrics - Springer-Verlag, 2010, 54(2017), 10 vom: Okt., Seite 879-881 |
|---|---|
| Übergeordnetes Werk: |
volume:54 ; year:2017 ; number:10 ; month:10 ; pages:879-881 |
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|---|
| DOI / URN: |
10.1007/s13312-017-1154-7 |
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| 520 | |a Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray | ||
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10.1007/s13312-017-1154-7 doi (DE-627)SPR031292348 (SPR)s13312-017-1154-7-e DE-627 ger DE-627 rakwb eng Tuteja, Moni verfasserin aut Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2017 Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray Agarwal, Divya aut Phadke, Shubha R. aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 54(2017), 10 vom: Okt., Seite 879-881 (DE-627)SPR031274943 nnns volume:54 year:2017 number:10 month:10 pages:879-881 https://dx.doi.org/10.1007/s13312-017-1154-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 54 2017 10 10 879-881 |
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10.1007/s13312-017-1154-7 doi (DE-627)SPR031292348 (SPR)s13312-017-1154-7-e DE-627 ger DE-627 rakwb eng Tuteja, Moni verfasserin aut Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2017 Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray Agarwal, Divya aut Phadke, Shubha R. aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 54(2017), 10 vom: Okt., Seite 879-881 (DE-627)SPR031274943 nnns volume:54 year:2017 number:10 month:10 pages:879-881 https://dx.doi.org/10.1007/s13312-017-1154-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 54 2017 10 10 879-881 |
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10.1007/s13312-017-1154-7 doi (DE-627)SPR031292348 (SPR)s13312-017-1154-7-e DE-627 ger DE-627 rakwb eng Tuteja, Moni verfasserin aut Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Indian Academy of Pediatrics 2017 Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray Agarwal, Divya aut Phadke, Shubha R. aut Enthalten in Indian Pediatrics Springer-Verlag, 2010 54(2017), 10 vom: Okt., Seite 879-881 (DE-627)SPR031274943 nnns volume:54 year:2017 number:10 month:10 pages:879-881 https://dx.doi.org/10.1007/s13312-017-1154-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_70 GBV_ILN_72 GBV_ILN_110 GBV_ILN_131 GBV_ILN_160 GBV_ILN_376 GBV_ILN_607 AR 54 2017 10 10 879-881 |
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double segment chromosomal imbalance due to inherited chromosomal translocation: detection by cytogenetic microarray |
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Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray |
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Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray © Indian Academy of Pediatrics 2017 |
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Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray © Indian Academy of Pediatrics 2017 |
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Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray © Indian Academy of Pediatrics 2017 |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR031292348</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230331071342.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2017 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s13312-017-1154-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR031292348</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s13312-017-1154-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Tuteja, Moni</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Double segment chromosomal imbalance due to inherited chromosomal translocation: Detection by cytogenetic microarray</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© Indian Academy of Pediatrics 2017</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Balanced translocations are common with the incidence of 1 in 500. Case characteristics Two cousins with intellectual disability with family history of holoprosencephaly. Results Microarray showed gain on chromosome 7 and loss on chromosome 11 and vice versa in the other cousin. Conclusions We highlight the importance of detailed family history, pedigree analysis, and utility of microarray</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Agarwal, Divya</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Phadke, Shubha R.</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="t">Indian Pediatrics</subfield><subfield code="d">Springer-Verlag, 2010</subfield><subfield code="g">54(2017), 10 vom: Okt., Seite 879-881</subfield><subfield code="w">(DE-627)SPR031274943</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:54</subfield><subfield code="g">year:2017</subfield><subfield code="g">number:10</subfield><subfield code="g">month:10</subfield><subfield code="g">pages:879-881</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://dx.doi.org/10.1007/s13312-017-1154-7</subfield><subfield code="z">lizenzpflichtig</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_SPRINGER</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_11</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_70</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_72</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_131</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_160</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_376</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_607</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">54</subfield><subfield code="j">2017</subfield><subfield code="e">10</subfield><subfield code="c">10</subfield><subfield code="h">879-881</subfield></datafield></record></collection>
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