Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI
Abdul Ali Peer-Zada1, Ali M Al-Asmari2
1Molecular Pathology (Genetics) Section Pathology and Clinical Laboratory Medicine Administration King Fahad Medical City Riyadh Saudi Arabia.
Clinical Case Reports
|August 8, 2017
Abstract:
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."
Keywords:
Chromosomal microarraySanger sequencingexome sequencingglutaric aciduriahomozygositymagnetic resonance imaging
