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Title:Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
Authors:ID Krgović, Danijela (Author)
ID Marčun-Varda, Nataša (Author)
ID Zagorac, Andreja (Author)
ID Kokalj-Vokač, Nadja (Author)
Files:.pdf Molecular_Cytogenetics_2011_Krgovic_et_al._Submicroscopic_interstitial_deletion_of_chromosome_11q22.3_in_a_girl_with_mild_mental_retarda.pdf (766,41 KB)
MD5: FCD8030A18E5F2BFD6025DBA9225F93B
 
URL http://molecularcytogenetics.biomedcentral.com/articles/10.1186/1755-8166-4-17
 
Language:English
Work type:Scientific work
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Abstract: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.
Keywords:11q22.3 deletion, mild mental retardation, facial dysmorphism
Publication status:Published
Publication version:Version of Record
Year of publishing:2011
Number of pages:str. 1-17
Numbering:Letn. 4
PID:20.500.12556/DKUM-66520 New window
ISSN:1755-8166
UDC:61
ISSN on article:1755-8166
COBISS.SI-ID:4029247 New window
DOI:10.1186/1755-8166-4-17 New window
NUK URN:URN:SI:UM:DK:CQCJCS3L
Publication date in DKUM:29.06.2017
Views:1653
Downloads:372
Metadata:XML DC-XML DC-RDF
Categories:Misc.
:
KRGOVIĆ, Danijela, MARČUN-VARDA, Nataša, ZAGORAC, Andreja and KOKALJ-VOKAČ, Nadja, 2011, Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report. Molecular Cytogenetics [online]. 2011. Vol. 4, p. 1–17. [Accessed 13 April 2025]. DOI 10.1186/1755-8166-4-17. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=66520
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Record is a part of a journal

Title:Molecular Cytogenetics
Publisher:BioMed Cental
ISSN:1755-8166
COBISS.SI-ID:3085332 New window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:29.06.2017

Secondary language

Language:Slovenian
Keywords:delecija 11q22.3, blaga duševna zaostalost, obrazni dismorfizem


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