3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay
Xin Bi,
Maureen S. Mulhern,
Erica Spiegel
et al.
Abstract:Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities. G-banded karyotype, FISH, SNP oligonucleotide microarray analysis (SOMA), and whole exome sequencing analysis were performed. Postnatal reanalysis of prenatal SOMA and follow-up parental testing revealed a pater… Show more
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