EGAGenomicsTranscriptome Analysishttps://ega-archive.org/studies/EGAS00001005697EGAEGA study EGAS00001005697Results of scRNA-seq analysis of a PBMC collected from a male with a mosaic 45,X/48,XYYY karyotypeEGArestrictedReticuloendothelial System, male human body, 48, single cell RNA sequencing, single-cell transcriptome sequencing, Peripheral Blood, PBM cell, XYYY, single-cell RNA-seq, whole blood, maleate, PBMC cell, Males, PBMC, PBMCs, sample, Blood, scRNA-seq, (2Z)-but-2-enedioate, Karyotypes., sample population, peripheral blood mononuclear cell, maleTcl1a, B Cells, Bursa-Dependent, Materials, DNS, (Deoxyribonucleotide)n, Bursa-Dependent Lymphocytes, Feature, Pituitary growth hormone, supply, Gene, B-Cell, Progress Reports, Lymphocyte B-Cells, Deoxyribonucleic acids, CG11121, height, ter, old, Client., Investigative, single-cell transcriptome sequencing, single-cell RNA-seq, Deoxyribonucleic Acid, DmelCG11121, Summary Report, Tcl1, TCL1, Summary Reports, treatment, Somatotropins, GH-N, Growth Hormone, thymus nucleic acid, somda, Genetic, Progress Report, distribution, long, Bursa Dependent Lymphocytes, Double Stranded, Deoxyribonucleic acid, SO, Genotypes, Progress, Growth Hormones, DmelCG4216, Field Reports, Karyotypes, Bsg75C, Clients, disease management, Therapies, Double-Stranded DNA, Characteristics, (Deoxyribonucleotide)m, growth hormone receptor ligand, deoxyribonucleic acids, DNAn, Investigative Reports, B Lymphocyte, So, Lymphocyte, Drl, Therapy, 48, B Lymphocytes, Pituitary Growth Hormone, DNAn+1, scRNA-seq, Double-Stranded, Lymphocyte B-Cell, Recombinant Somatotropin, Cistrons, Cell, results, Mdu, (Deoxyribonucleotide)n+m, single cell RNA sequencing, Characteristic, Investigative Report, Genogroup, mda, Growth hormone 1, Term, Research Reports, Somatotropin, Recombinant Growth Hormones, Genetic Materials, supply and distribution, ds-DNA, desoxyribose nucleic acid, ami, Growth hormone, Genetic Material, Bursa-Dependent Lymphocyte, XYYY, med, Field, CG4216, Lymphocytes, patient, Features, growth hormone, Treatments, Wachstumshormon, Recombinant, GH, Genogroups, B-Cells, Report, Recombinant Growth Hormone, Reports, Therapeutic, Patient, Material, B-Lymphocyte, Recombinant Somatotropins, ds DNA, Desoxyribonukleinsaeure, Growth Hormones Pituitary, Treatment, Cistron, Pituitary, growth hormones, DNA, Pituitary Growth Hormones, Summary, Recombinant Pituitary Growth Hormones, Field ReportfalseSingle-cell RNA sequencing of a PBMC sample collected from a male with 45,X/48,XYYY karyotypeWe report a 14-year-old boy with mosaic 45,X/48,XYYY karyotype presenting with subtle dysmorphic features and height deficiency, requiring growth hormone therapy. Single-cell RNA sequencing revealed widespread differences in genotype distribution between 45,X and 48,XYYY immune cells, with concordant results at DNA level. Deregulation of predominantly autosomal genes was observed, including TCL1A overexpression in 45,X B-lymphocytes and other known genes associated with hematological malignancies, prompting long-term personalized hemato-oncological surveillance in the reported patient.2022-10-06 09:53:47EGAS000010056979606EGAD00001008645EGAC00001002373