20.500.12556/DKUM-66848 Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1 Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Molecular karyotyping was performed on the patient and her parents. It revealed an 8.6 megabase deletion with the proximal breakpoint in the chromosome band 2q32.2 and the distal breakpoint in 2q33.1. The deletion encompassed 22 known genes, including the GLS, MYO1B, TMEFF2, PGAP1 and SATB2 genes. The observed deletion was confirmed using a paralogue ratio test. This case report provides further evidence that the SATB2 gene, together with GLS, MYO1B, TMEFF2 and possibly PGAP1, is a crucial gene in 2q32q33 microdeletion syndrome. The SATB2 gene seems to be crucial for the behavioural problems noted in our case, but deletion of the GLS, MYO1B and TMEFF2 genes presumably contributed to the more complex behavioural characteristics observed. Our patient is also, to our knowledge, the only patient with 2q32q33 microdeletion syndrome with secondary cognitive decline. 2q32q33 microdeletion syndrome behavioural problems secondary cognitive decline developmental delay SATB2 gene mikrodelecijski sindrom 2q32q33 vedenjski problemi mikrodelecija sindrom sekundarni upad kognitivnih sposobnosti zaostanek v razvoju gen SATB2 true false true Angleški jezik Slovenski jezik Znanstveno delo 2017-07-13 09:10:01 2017-07-13 09:10:43 2022-08-01 13:14:28 2019-07-11 16:00:44 2016 0 0 str. 395-402 št. 2 Letn. 44 2016 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 0300-0605 575 28593625 5609791 10.1177/0300060515595651 0300-0605 URN:SI:UM:DK:VMYOEGAH Journal_of_International_Medical_Research_2016_Gregoric_Kumperscak,_Krgovic,_Vokac_Specific_behavioural_phenotype_and_secondary_cognitiv.pdf Journal_of_International_Medical_Research_2016_Gregoric_Kumperscak,_Krgovic,_Vokac_Specific_behavioural_phenotype_and_secondary_cognitiv.pdf 1 5925FD4D31058E3D7E29DD318F6916B9 2fe285291e169c5d357daaa128bb77323e034d3493b017a9e36020b0d72948d4 68a50ee5-7c0e-11eb-bb7a-00155d0001ca 20.500.12556/dkum/f1cb4ca2-3adc-41a9-8800-c5f0d64d04f3 https://dk.um.si/Dokument.php?lang=slv&id=114130 http://journals.sagepub.com/doi/10.1177/0300060515595651 1 https://dk.um.si/Dokument.php?lang=slv&id=114129 Medicinska fakulteta 0 0 0