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

Povzetek

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.

Ključne besede

11q22.3 deletion;mild mental retardation;facial dysmorphism;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.01 - Izvirni znanstveni članek
Organizacija: UM - Univerza v Mariboru
UDK: 61
COBISS: 4029247 Povezava se bo odprla v novem oknu
ISSN: 1755-8166
Št. ogledov: 984
Št. prenosov: 325
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: Chromosome Deletion;Kromosomska delecija;Congenital Abnormalities;Prirojene nepravilnosti;Mental Retardation;Duševna manjrazvitost;Child;Otrok;Genetics;Genetika;
URN: URN:SI:UM:
Vrsta dela (COBISS): Znanstveno delo
Strani: 17
Zvezek: ǂ[Vol.] ǂ4
Čas izdaje: 2011
DOI: 10.1186/1755-8166-4-17
ID: 10845028