Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detai...

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Autores principales: Oren, Marina S., Camacho, Jenny E., Xie, Hongyan, Lowe, Jean, Cushing, Tom, Clericuzio, Carol, Maxwell, Jessie R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509895/
https://www.ncbi.nlm.nih.gov/pubmed/31110711
http://dx.doi.org/10.1002/ccr3.2109
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author Oren, Marina S.
Camacho, Jenny E.
Xie, Hongyan
Lowe, Jean
Cushing, Tom
Clericuzio, Carol
Maxwell, Jessie R.
author_facet Oren, Marina S.
Camacho, Jenny E.
Xie, Hongyan
Lowe, Jean
Cushing, Tom
Clericuzio, Carol
Maxwell, Jessie R.
author_sort Oren, Marina S.
collection PubMed
description Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.
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spelling pubmed-65098952019-05-20 Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome Oren, Marina S. Camacho, Jenny E. Xie, Hongyan Lowe, Jean Cushing, Tom Clericuzio, Carol Maxwell, Jessie R. Clin Case Rep Case Reports Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required. John Wiley and Sons Inc. 2019-03-25 /pmc/articles/PMC6509895/ /pubmed/31110711 http://dx.doi.org/10.1002/ccr3.2109 Text en © 2019 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
Oren, Marina S.
Camacho, Jenny E.
Xie, Hongyan
Lowe, Jean
Cushing, Tom
Clericuzio, Carol
Maxwell, Jessie R.
Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title_full Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title_fullStr Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title_full_unstemmed Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title_short Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
title_sort postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509895/
https://www.ncbi.nlm.nih.gov/pubmed/31110711
http://dx.doi.org/10.1002/ccr3.2109
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