Article
Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.
Cytogenetic and genome research - 1 Jan 2019
Zaki Maha S, Eid Ola M, Eid Maha M, Mohamed Amal M, Sayed Inas S M, Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H
Abstract excerpt
We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2,...
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