Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2

摘要: In this report, we present a patient with brain alterations and dysmorphic features associated chromosome duplication seen in 4p16.3 region chromosomal deletion critical responsible for Cri-du-chat syndrome (CdCS). Chromosomal microarray analysis (CMA) revealed 41.1 Mb encompassing the band 4p16.3-p13, 14.7 located between bands 5p15.33 p15.1. The patient's clinical findings overlap previously reported cases of 4p CdCS. symptoms are notably similar to those CdCS patients as she presented weak, high-pitched voice showed pathogenicity observed MRI. These contiguous gene syndromes distinct manifestations. However, phenotypic cytogenetic variability affected individuals, such low frequency large genomic regions that can be altered, make it challenging identify candidate genes contribute pathogenesis these syndromes. Therefore, systems biology CMA techniques were used investigate extent rearrangement on our phenotype. We identified PPARGC1A, CTBP1, TRIO, TERT, CCT5 neuropsychomotor delay, microcephaly, neurological found patient. Through investigating pathways associate essential nodes protein interaction network, discovered proteins involved cellular differentiation proliferation, well formation disposition cytoskeleton. combination cytogenomic bioinformatic provided possible explanations unique phenotype, which has not yet been described scientific literature.