{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Transcriptome Analysis"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001005697"],"host":["EGA"],"description":["EGA study EGAS00001005697"],"dataset_title":["Results of scRNA-seq analysis of a PBMC collected from a male with a mosaic 45,X/48,XYYY karyotype"],"repository":["EGA"],"category":["restricted"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell RNA sequencing of a PBMC sample collected from a male with 45,X/48,XYYY karyotype","description":"We 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.","dates":{"updated":"2022-10-06 09:53:47"},"accession":"EGAS00001005697","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001008645","EGAC00001002373"]}}