Author/Editor		Writzl, Karin; Lovrečić, Luca; Vojtaššak, Jan; Peterlin, Borut
Title		SATB2 haploinsufficiency in patients with cleft palate
Type		članek
Source		Central European Journal of Medicine
Vol. and No.		Letnik 5, št. 3
Publication year		2010
Volume		str. 318-21
Language		eng
Abstract		De novo translocation interrupting the transcription unit of SATB2 gene has been associated with cleft palate only (CPO). We tested for the presence of the copy number of SATB2 gene in a sample of 92 patients with CPO using a quantitative real-time PCR approach. In one patient (1%, 95% CI = 0.2% - 6%), a 19 Mb de novo deletion encompassing the SATB2 gene was detected. These results suggest that SATB2 gene deletions do not play an important role in the etiology of cleft palate.
Descriptors		CLEFT PALATE TRANSLOCATION (GENETICS) TRANSCRIPTION, GENETIC CHROMOSOME DELETION POLYMERASE CHAIN REACTION HAPLOTYPES