| Naslov: | Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report |
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| Avtorji: | ID Krgović, Danijela (Avtor)
ID Marčun-Varda, Nataša (Avtor)
ID Zagorac, Andreja (Avtor)
ID Kokalj-Vokač, Nadja (Avtor) |
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| Datoteke: |  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
 http://molecularcytogenetics.biomedcentral.com/articles/10.1186/1755-8166-4-17
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| Jezik: | Angleški jezik |
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| Vrsta gradiva: | Znanstveno delo |
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| Tipologija: | 1.01 - Izvirni znanstveni članek |
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| Organizacija: | MF - Medicinska fakulteta
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| Opis: | 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. |
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| Ključne besede: | 11q22.3 deletion, mild mental retardation, facial dysmorphism |
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| Status publikacije: | Objavljeno |
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| Verzija publikacije: | Objavljena publikacija |
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| Leto izida: | 2011 |
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| Št. strani: | str. 1-17 |
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| Številčenje: | Letn. 4 |
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| PID: | 20.500.12556/DKUM-66520  |
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| ISSN: | 1755-8166 |
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| UDK: | 61 |
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| COBISS.SI-ID: | 4029247 |
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| DOI: | 10.1186/1755-8166-4-17 |
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| ISSN pri članku: | 1755-8166 |
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| NUK URN: | URN:SI:UM:DK:CQCJCS3L |
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| Datum objave v DKUM: | 29.06.2017 |
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| Število ogledov: | 1653 |
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| Število prenosov: | 367 |
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| Metapodatki: |    |
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| Področja: | Ostalo
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