Danijela Krgović (Author), Nataša Marčun-Varda (Author), Andreja Zagorac (Author), Nadja Kokalj-Vokač (Author)

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;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Organization: UM - University of Maribor
UDC: 61
COBISS: 4029247 Link will open in a new window
ISSN: 1755-8166
Views: 984
Downloads: 325
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Other data

Secondary language: Slovenian
Secondary keywords: Chromosome Deletion;Kromosomska delecija;Congenital Abnormalities;Prirojene nepravilnosti;Mental Retardation;Duševna manjrazvitost;Child;Otrok;Genetics;Genetika;
URN: URN:SI:UM:
Type (COBISS): Scientific work
Pages: 17
Issue: ǂ[Vol.] ǂ4
Chronology: 2011
DOI: 10.1186/1755-8166-4-17
ID: 10845028