{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang Q"],"funding":["National Natural Science Foundation of China"],"pagination":["e2248"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10568374"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(10)"],"pubmed_abstract":["<h4>Background</h4>We describe a 13-year-old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre- and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her maternal family members all had histories of reproductive problems.<h4>Methods</h4>Maternal family members with histories of reproductive problems were studied using G-banded karyotyping and optical genome mapping (OGM). Long-range PCR (LR-PCR) and Sanger sequencing were used to confirm the precise break point sequences obtained by OGM.<h4>Results</h4>G-banded karyotyping characterized the cytogenetic results as 46,XX,der(9)?del(9)(q21q22)t(9;14)(q22;q24),der(11)ins(11;?9)(q13;?q21q22),der(14)t(9;14)"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation."],"pmcid":["PMC10568374"],"funding_grant_id":["82101943","81971398"],"pubmed_authors":["Ji X","Zhou R","Liu A","Meng L","Wang Y","Zhang Q","Xu Z","Zhou J","Hu P"],"additional_accession":[]},"is_claimable":false,"name":"11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.","description":"<h4>Background</h4>We describe a 13-year-old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre- and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her maternal family members all had histories of reproductive problems.<h4>Methods</h4>Maternal family members with histories of reproductive problems were studied using G-banded karyotyping and optical genome mapping (OGM). Long-range PCR (LR-PCR) and Sanger sequencing were used to confirm the precise break point sequences obtained by OGM.<h4>Results</h4>G-banded karyotyping characterized the cytogenetic results as 46,XX,der(9)?del(9)(q21q22)t(9;14)(q22;q24),der(11)ins(11;?9)(q13;?q21q22),der(14)t(9;14)","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Oct","modification":"2026-05-28T23:16:51.766Z","creation":"2025-02-18T23:52:45.831Z"},"accession":"S-EPMC10568374","cross_references":{"pubmed":["37475652"],"doi":["10.1002/mgg3.2248"]}}