Avtor/Urednik		Krgović, Danijela; Marčun-Varda, Nataša; Zagorac, Andreja; Kokalj-Vokač, Nadja
Naslov		Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: case report
Tip		članek
Vir		Molecular cytogenetics
Vol. in št.		Letnik 4
Leto izdaje		2011
Obseg		str. 17
Jezik		eng
Abstrakt		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.
Deskriptorji		CHROMOSOME DELETION MENTAL RETARDATION CHILD GENETICS