20.500.12556/DKUM-66520 Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report Background: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results: Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. A contrary array-CGH analysis indicated a small deletion of 11q22.3. Discussion: To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described. 11q22.3 deletion mild mental retardation facial dysmorphism delecija 11q22.3 blaga duševna zaostalost obrazni dismorfizem true false true Angleški jezik Slovenski jezik Znanstveno delo 2017-06-29 12:54:20 2017-06-29 12:55:11 2022-07-11 03:07:28 2019-07-11 15:50:13 2011 0 0 str. 1-17 Letn. 4 2011 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 1755-8166 61 3085332 4029247 10.1186/1755-8166-4-17 1755-8166 URN:SI:UM:DK:CQCJCS3L Molecular_Cytogenetics_2011_Krgovic_et_al._Submicroscopic_interstitial_deletion_of_chromosome_11q22.3_in_a_girl_with_mild_mental_retarda.pdf Molecular_Cytogenetics_2011_Krgovic_et_al._Submicroscopic_interstitial_deletion_of_chromosome_11q22.3_in_a_girl_with_mild_mental_retarda.pdf 1 FCD8030A18E5F2BFD6025DBA9225F93B 93053f90f9d1f1fece0f01fa7eae28f2103bb6907d62d784d6fc60e8f266c644 52c5d00d-7c0e-11eb-bb7a-00155d0001ca https://dk.um.si/Dokument.php?lang=slv&id=113350 http://molecularcytogenetics.biomedcentral.com/articles/10.1186/1755-8166-4-17 1 https://dk.um.si/Dokument.php?lang=slv&id=113349 Medicinska fakulteta 0 0 0