VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p
The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromos...
Ausführliche Beschreibung
Autor*in: |
Samornmas Kanngurn [verfasserIn] Rathapol Suebsinsatchawong [verfasserIn] Pornprot Limprasert [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2020 |
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Übergeordnetes Werk: |
In: Siriraj Medical Journal - Mahidol University, 2017, 64(2020), 6 |
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Übergeordnetes Werk: |
volume:64 ; year:2020 ; number:6 |
Links: |
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Katalog-ID: |
DOAJ070893179 |
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(DE-627)DOAJ070893179 (DE-599)DOAJe01dbe682380456a9affc9014cfb550c DE-627 ger DE-627 rakwb eng R5-920 Samornmas Kanngurn verfasserin aut VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. VACTERL VATER add (17) 17p chromosome Medicine (General) Rathapol Suebsinsatchawong verfasserin aut Pornprot Limprasert verfasserin aut In Siriraj Medical Journal Mahidol University, 2017 64(2020), 6 (DE-627)1760599492 22288082 nnns volume:64 year:2020 number:6 https://doaj.org/article/e01dbe682380456a9affc9014cfb550c kostenfrei https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/244197 kostenfrei https://doaj.org/toc/2228-8082 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2020 6 |
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(DE-627)DOAJ070893179 (DE-599)DOAJe01dbe682380456a9affc9014cfb550c DE-627 ger DE-627 rakwb eng R5-920 Samornmas Kanngurn verfasserin aut VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. VACTERL VATER add (17) 17p chromosome Medicine (General) Rathapol Suebsinsatchawong verfasserin aut Pornprot Limprasert verfasserin aut In Siriraj Medical Journal Mahidol University, 2017 64(2020), 6 (DE-627)1760599492 22288082 nnns volume:64 year:2020 number:6 https://doaj.org/article/e01dbe682380456a9affc9014cfb550c kostenfrei https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/244197 kostenfrei https://doaj.org/toc/2228-8082 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2020 6 |
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(DE-627)DOAJ070893179 (DE-599)DOAJe01dbe682380456a9affc9014cfb550c DE-627 ger DE-627 rakwb eng R5-920 Samornmas Kanngurn verfasserin aut VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. VACTERL VATER add (17) 17p chromosome Medicine (General) Rathapol Suebsinsatchawong verfasserin aut Pornprot Limprasert verfasserin aut In Siriraj Medical Journal Mahidol University, 2017 64(2020), 6 (DE-627)1760599492 22288082 nnns volume:64 year:2020 number:6 https://doaj.org/article/e01dbe682380456a9affc9014cfb550c kostenfrei https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/244197 kostenfrei https://doaj.org/toc/2228-8082 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2020 6 |
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(DE-627)DOAJ070893179 (DE-599)DOAJe01dbe682380456a9affc9014cfb550c DE-627 ger DE-627 rakwb eng R5-920 Samornmas Kanngurn verfasserin aut VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. VACTERL VATER add (17) 17p chromosome Medicine (General) Rathapol Suebsinsatchawong verfasserin aut Pornprot Limprasert verfasserin aut In Siriraj Medical Journal Mahidol University, 2017 64(2020), 6 (DE-627)1760599492 22288082 nnns volume:64 year:2020 number:6 https://doaj.org/article/e01dbe682380456a9affc9014cfb550c kostenfrei https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/244197 kostenfrei https://doaj.org/toc/2228-8082 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2020 6 |
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(DE-627)DOAJ070893179 (DE-599)DOAJe01dbe682380456a9affc9014cfb550c DE-627 ger DE-627 rakwb eng R5-920 Samornmas Kanngurn verfasserin aut VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. VACTERL VATER add (17) 17p chromosome Medicine (General) Rathapol Suebsinsatchawong verfasserin aut Pornprot Limprasert verfasserin aut In Siriraj Medical Journal Mahidol University, 2017 64(2020), 6 (DE-627)1760599492 22288082 nnns volume:64 year:2020 number:6 https://doaj.org/article/e01dbe682380456a9affc9014cfb550c kostenfrei https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/244197 kostenfrei https://doaj.org/toc/2228-8082 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 64 2020 6 |
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R5-920 VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p VACTERL VATER add (17) 17p chromosome |
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VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p |
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VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p |
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The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. |
abstractGer |
The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. |
abstract_unstemmed |
The case of a term Thai male infant with VACTERL anomalies including imperforate anus, atrial septal defect, tracheo-esophageal (TE) fistula, and horseshoe kidney with bilateral hydronephrosis whose chromosome study revealed an additional genomic segment of unknown origin on the short arm of chromosome 17 is reported. The karyotype is described as 46, XY, add (17) (p13), which has never been previously reported in VACTERL association. |
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VACTERL Association in a Male Infant with an Additional Genomic Segment on Chromosome 17p |
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