Naslov
Cornelia de Lange syndrome caused by heterozygous deletions of chromosome 8q24: comments on the article by Pereza et al. [2012]

Autori
Pereza, Nina ; Severinski, Srećko ; Ostojić, Saša ; Volk, Marija ; Maver, Aleš ; Dekanić, Kristina Baraba ; Kapović, Miljenko ; Peterlin, Borut

Izvornik
American journal of medical genetics. Part A (1552-4825) 167 (2015), 6; 1426-1427

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pismo uredniku, znanstveni

Ključne riječi
Cornelia de Lange syndrome ; Langer-Giedion syndrome ; chromosome deletion

Sažetak
In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. Recent discoveries have shown that heterozygous intragenic mutations or contiguous gene deletions including the RAD21 gene, which is located downstream of the TRPS1 gene, are the cause of Cornelia de Lange syndrome-4. Considering that the interstitial deletion in our patient included the RAD21 and 30 other RefSeq genes, we would like to suggest a revision of the diagnosis reported in our previous paper and compare our patient to other reported patients with Cornelia de Lange syndrome-4 caused by heterozygous deletions of chromosome 8q24.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA