A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH

In addition to detecting trisomies of whole chromosomes, QF‐PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is...

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Autores principales: Bhola, Shama L., Nieuwint, Aggie W. M., Stuurman, Kyra E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028365/
https://www.ncbi.nlm.nih.gov/pubmed/29988599
http://dx.doi.org/10.1002/ccr3.1563
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author Bhola, Shama L.
Nieuwint, Aggie W. M.
Stuurman, Kyra E.
author_facet Bhola, Shama L.
Nieuwint, Aggie W. M.
Stuurman, Kyra E.
author_sort Bhola, Shama L.
collection PubMed
description In addition to detecting trisomies of whole chromosomes, QF‐PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected.
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spelling pubmed-60283652018-07-09 A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH Bhola, Shama L. Nieuwint, Aggie W. M. Stuurman, Kyra E. Clin Case Rep Case Reports In addition to detecting trisomies of whole chromosomes, QF‐PCR can also detect partial trisomies of the chromosomes 13, 18, and 21, which can suggest an unbalanced translocation. Additional testing with other techniques, such as microarray or FISH, is recommended when an unbalanced translocation is suspected. John Wiley and Sons Inc. 2018-05-29 /pmc/articles/PMC6028365/ /pubmed/29988599 http://dx.doi.org/10.1002/ccr3.1563 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Bhola, Shama L.
Nieuwint, Aggie W. M.
Stuurman, Kyra E.
A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title_full A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title_fullStr A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title_full_unstemmed A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title_short A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF‐PCR, and characterized by array CGH and FISH
title_sort prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by qf‐pcr, and characterized by array cgh and fish
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028365/
https://www.ncbi.nlm.nih.gov/pubmed/29988599
http://dx.doi.org/10.1002/ccr3.1563
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