0000000000077103
AUTHOR
ÇIğdem Tepe Karaca
Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/
We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is t…
Recurrence rate of odontogenic keratocyst treated by enucleation and peripheral ostectomy: Retrospective case series with up to 12 years of follow-up
Background Odontogenic keratocysts have been reported with high recurrence rates in the literature so various treatment modalities from simple enucleation to resection have been performed to achieve the cure. The purpose of this retrospective study was to investigate the recurrence rate of odontogenic keratocysts (OKCs) treated by enucleation and peripheral ostectomy. Material and Methods An electronic search of the database of the Hacettepe University, Faculty of Medicine, Department of Pathology, was undertaken to identify patients histologically diagnosed with OKCs treated at Department of Oral and Maxillofacial Surgery between 2001 and 2015. Results In total, 81 patients were studied. T…