Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria

Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1. The case also points a need for an extra amount of caution to be exercised when evaluating patients with “ne...

Descripción completa

Detalles Bibliográficos
Autores principales: Peer‐Zada, Abdul Ali, Al‐Asmari, Ali M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538054/
https://www.ncbi.nlm.nih.gov/pubmed/28781846
http://dx.doi.org/10.1002/ccr3.1054
_version_ 1783254293976973312
author Peer‐Zada, Abdul Ali
Al‐Asmari, Ali M.
author_facet Peer‐Zada, Abdul Ali
Al‐Asmari, Ali M.
author_sort Peer‐Zada, Abdul Ali
collection PubMed
description Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1. The case also points a need for an extra amount of caution to be exercised when evaluating patients with “negative exomes.”
format Online
Article
Text
id pubmed-5538054
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-55380542017-08-04 Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria Peer‐Zada, Abdul Ali Al‐Asmari, Ali M. Clin Case Rep Case Reports Herein, we report a conceptually novel clinical case highlighting the diagnostic implications of excessive homozygosity and its correlation with brain MRI abnormalities in an infant with GA1. The case also points a need for an extra amount of caution to be exercised when evaluating patients with “negative exomes.” John Wiley and Sons Inc. 2017-06-28 /pmc/articles/PMC5538054/ /pubmed/28781846 http://dx.doi.org/10.1002/ccr3.1054 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Peer‐Zada, Abdul Ali
Al‐Asmari, Ali M.
Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title_full Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title_fullStr Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title_full_unstemmed Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title_short Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria
title_sort excessive homozygosity identified by chromosomal microarray at a known gcdh mutation locus correlates with brain mri abnormalities in an infant with glutaric aciduria
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538054/
https://www.ncbi.nlm.nih.gov/pubmed/28781846
http://dx.doi.org/10.1002/ccr3.1054
work_keys_str_mv AT peerzadaabdulali excessivehomozygosityidentifiedbychromosomalmicroarrayataknowngcdhmutationlocuscorrelateswithbrainmriabnormalitiesinaninfantwithglutaricaciduria
AT alasmarialim excessivehomozygosityidentifiedbychromosomalmicroarrayataknowngcdhmutationlocuscorrelateswithbrainmriabnormalitiesinaninfantwithglutaricaciduria

Ejemplares similares