Search results for "Supernumerary"
showing 10 items of 36 documents
Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia
1999
SummaryCleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of clavicles, short stature, supernumerary teeth, and other skeletal anomalies. We recently demonstrated that mutations in the transcription factor CBFA1, on chromosome 6p21, are associated with CCD. We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD. In 18 patients, mutations were detected in the coding region of the CBFA1 gene, including 8 frameshift, 2 nonsense, and 9 missense mutations, as well as 2 novel polymorphisms. A cluster of missense mutations at arginine 225 (R225) identifies this residue as crucial for CBFA1 function. …
Clinical repercussions and epidemiological considerations of supernumerary canines : a 26 case series
2019
Background To establish the prevalence of supernumerary canines (SNC) in a sector of the population of Madrid (Spain), as well possible complications associated with this unusual developmental variation. Material and Methods This observational study was performed between 2005 and 2017, among 21,615 patients seeking dental treatment at the Faculty of Dentistry, Complutense University of Madrid (Spain), and at the Virgen de la Paloma Hospital, Madrid (Spain); 22 patients with 26 SNCs were diagnosed. These 22 patients underwent clinical and radiological exploration, registering patient data. Results SNCs presented a prevalence of 0.10% of the study population. The supernumerary teeth (SNT) wer…
Ecdysteroid titres in a tenebrionid beetle, Zophobas atratus: effects of grouping and isolation.
1997
Metamorphosis in Zophobas atratus is dependent on isolation: when kept in grouped conditions, larvae undergo numerous supernumerary moults, growing in size, without pupating. This beetle thus represents an interesting model for the analysis of possible differences in the endocrine regulation of normal vs. supernumerary larval moults. In this study, the ecdysteroid titres have been analysed in this species, using enzyme immunoassay. The hormonal variations of larvae undergoing normal or supernumerary larval cycles were particularly examined, in either grouped or isolated conditions. Normal larval cycles presented very similar ecdysteroid variations in grouped as well as isolated conditions, …
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…
2005
Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …
Pigmentary mosaicism in hypomelanosis of Ito
1998
We report on a female with mental and motor retardation, facial dysmorphism, abnormal pigmentation reminiscent to hypomelanosis of Ito (HI), and karyotypic mosaicism involving a small supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridisation (FISH) as a ring X chromosome with breakpoints in the juxtacentromeric region. FISH analysis showed that the ring does not include the XIST locus at the X-inactivation centre and, therefore, may not be subject to X inactivation. X-inactivation studies with the HUMARA (human androgen receptor) and FMR1 assay showed a skewed X-inactivation pattern (85:15) with preferential inactivation of the paternal X chrom…
Localization of amplified CAD genes on rearranged chromosomes of Chinese hamster cells
2012
Chinese hamster cell lines carrying an amplified CAD region were selected from V79,B7 cells by their resistance to N-phosphonacetyl-L-aspartate (PALA). In one of the selected cell lines, SP PALA (inf1) (supR) L, an acrocentric chromosome with abnormally elongated q arms was identified as a marker for the PALA-resistant phenotype. The marker chromosome carried a homogeneously staining region close to a telomeric nucleolar organizer region. In the same region, localization of amplified CAD sequences was demonstrated by in situ hybridization. The marker chromosome was found to undergo extensive rearrangements. In particular, dicentric chromosomes, occurring with an unusually high incidence, we…
Dental anomalies in a Portuguese population
2013
The aim of this study was to evaluate the prevalence and pattern of agenesis, supernumerary teeth, impacted teeth and transpositions, as well as the relation between them, in a Portuguese sample.The study sample consisted of 2888 patients, observed between 2005 and 2009 at the Dentistry Clinic of the Instituto Superior de Ciências da Saúde-Norte (ISCSN, Portugal). The study included evaluation of the following parameters: agenesis of all teeth, supernumerary teeth, impacted permanent teeth and tooth transposition. The age range varied from 7 to 21 years. In order to study the absence of the third molar, subjects aged below 14 years were excluded. Statistical analysis was performed using SPS…
Study on frequency of dental developmental alterations in a MEXICAN school-based population
2016
Background The aim of this study was to know the distribution of dental developmental alterations in the population requesting stomatological attention at the Admission and Diagnosis Clinic of our institution in Mexico City. Material and Methods We reviewed the archives and selected those files with developmental dental alterations. Analyzed data were diagnoses, age, gender, location and number of involved teeth. Results Of the 3.522 patients reviewed, 179 (5.1%) harbored 394 developmental dental alterations. Of them, 45.2% were males and 54.8% were females with a mean age of 16.7 years. The most common were supernumeraries, dental agenesia and dilaceration. Adults were 30.7% of the patient…
Primary double teeth. A retrospective clinical study of their morphological characteristics and associated anomalies
2000
Aim. To investigate the relationship between morphology and position of double teeth, and the occurrence of other dental anomalies in the same subjects and in their siblings. Sample of children and methods. Fifty-three double teeth in a group of 50 Spanish children were included in the study. All of these children were examined clinically and had radiographs and photographs taken at the time of examination. Twenty-two of the children had a total of 30 siblings who were also examined for the presence of anomalies. Results. Of the 50 subjects, 47 had one and three subjects had two double teeth. Statistically there were no significant differences in occurrence between boys and girls, left and …
Tight Link Between Our Sense of Limb Ownership and Self-Awareness of Actions
2007
Background and Purpose— Hemiparetic stroke patients with disturbed awareness for their motor weakness (anosognosia for hemiparesis/-plegia [AHP]) may exhibit further abnormal attitudes toward or perceptions of the affected limb(s). The present study investigated the clinical relationship and the anatomy of such abnormal attitudes and AHP. Methods— In a new series of 79 consecutively admitted acute stroke patients with right brain damage and hemiparesis/ -plegia, different types of abnormal attitudes toward the hemiparetic/plegic limb (asomatognosia, somatoparaphrenia, anosodiaphoria, misoplegia, personification, kinaesthetic hallucinations, supernumerary phantom limb) were investigated. Re…