A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda.
Explore the source record for details and available documents.
Adolescent↗
Biomedical subjects
S Artan
Publications and source records attributed to S Artan.
Genetic imbalances in endometrial hyperplasia and endometrioid carcinoma detected by comparative genomic hybridization.
OBJECTIVE: To evaluate the sequential genomic copy alterations related to the development of precursor lesions and endometrioid-type endometrial carcinomas, and its association with cellular atypia. STUDY DESIGN: Paraffin-embedded tissue specimens from 32 cases of endometrial hyperplasia, 15 of endometrial carcinoma, and 20 of normal endometrial tissue were retrospectively evaluated by the comparative genomic hybridization (CGH) technique. The average number of copy alterations (ANCA) index was used to define the incidence of genomic imbalances in each tissue group. Identified sequential genetic abnormalities were compared with the final histopathological diagnosis and the cellular atypia. RESULTS: Detectable and consistent chromosomal imbalances were found in 13 hyperplasia and 9 carcinoma specimens. There was a significant correlation between ANCA value and degree of cellular atypia and tumor grade. While 1p36-pter, 20q deletions, and 4q overrepresentation were the most prevalent imbalances detected in both complex hyperplasia and complex atypical hyperplasia, 17q22-qter deletion and amplification of 2p34 were only seen in hyperplasia with atypical cells. Overrepresentations of chromosomes 8q, 1q, and 3q are the most frequent aberrations in endometrial carcinomas, but were absent from all the precursor lesions except one. Underrepresentations of chromosomes 1p36-pter and 10q are the other commonly seen aberrations in carcinomas, the latter being more frequent in moderately differentiated than in poorly differentiated lesions. CONCLUSIONS: Different patterns of chromosomal aberrations are seen in precursor lesions than in endometrial carcinomas, except for the loss of 1p36-pter. The presence of 1p deletion in both endometrial hyperplasia and cancer specimens suggests that this is an early event in the development of carcinoma. These results support a stepwise mode of tumorigenesis with accumulation of a series of genomic copy alterations in endometrial carcinogenesis.
Chromosome Aberrations↗
Small marker chromosome identification in metaphase and interphase using centromeric multiplex fish (CM-FISH).
Multicolor karyotyping procedures, such as multiplex fluorescence in situ hybridization (M-FISH), spectral karyotyping, or color-changing karyotyping, can be used to detect chromosomal rearrangements and marker chromosomes in prenatal diagnosis, peripheral blood cultures, leukemia, and solid tumors, especially in cases where G-banding is not sufficient. A regular M-FISH analysis requires relatively large amounts of labeled DNA (microgram quantities), is not informative in interphase nuclei, hybridization can take up to 2 to 3 days, and unlabeled human chromosome-painting probes are not available commercially. Unique probes (plasmids, PAC), specific for centromeric or subtelomeric chromosomal regions, can replace the painting probes in M-FISH to address specific issues, such as the identification of marker chromosomes and aneuploidies. A set of plasmid probes carrying repetitive sequences specific for the alpha-satellite region of all human chromosomes were combined in a metaphase assay and an interphase assay, allowing identification of aneuploidies in one hybridization step, on a single cytogenetic slide. The fluorophore-dUTP and the labeled antibodies required to label and detect the DNA probes can be prepared in any laboratory. All DNA probes can be easily isolated and labeled using common molecular cytogenetic procedures. Because of the repetitive nature of the probes, hybridization time is short, usually less than 1 hour, and the analysis can be performed with nonspecialized image-processing software.
Aneuploidy↗
Cryptic translocation identification in human and mouse using several telomeric multiplex fish (TM-FISH) strategies.
Experimental data published in recent years showed that up to 10% of all cases of mild to severe idiopathic mental retardation may result from small rearrangements of the subtelomeric regions of human chromosomes. To detect such cryptic translocations, we developed a "telomeric" multiplex fluorescence in situ hybridization (M-FISH) assay, using a set of previously published and commercially available subtelomeric probes. This set of probes includes 41 cosmid/PAC/P1 clones located from less than 100 kilobases to approximately 1 megabase from the end of the chromosomes. Similarly, a published mouse probe set, comprised of BACs hybridizing to the closest known marker toward the centromere and telomere of each mouse chromosome, was used to develop a mouse-specific "telomeric" M-FISH. Three different combinatorial labeling strategies were used to simultaneously detect all human subtelomeric regions on one slide. The simplest approach uses only three fluors and can be performed in laboratories lacking sophisticated imaging equipment or personnel highly trained in cytogenetics. A standard fluorescence microscope equipped with only three filters is sufficient. Fluor-dUTPs and labeled probes can be custom made, thus dramatically reducing costs. Images can be prepared using imaging software (Adobe Photoshop) and analysis performed by simple visual inspection.
Animals↗
Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis.
A 45,X/46,Xidic(Y)(q11.2) mosaicism was found in a 4-year-old boy. The clinical appearance was characterized by bilateral cryptorchidism, penoscrotal hypospadias, short penis, and coarctation of the aorta. The latter is the only abnormality also seen in Turner syndrome. A biopsy of the gonads revealed normal prepubertal testicular tissue. A chromosome analysis in all boys with penoscrotal, scrotal, or perineal hypospadias and a thorough examination of the heart in children with 45,X/46,XY mosaicism are recommended.
Aortic Coarctation↗
Prognostic significance of deletion and over-expression of the p53 gene in epithelial ovarian cancer.
PURPOSE OF INVESTIGATION: To define the deletion or over-expression of p53 genes and their prognostic significance in epithelial ovarian cancers. METHODS: A total of 26 patients with epithelial ovarian cancer, who had undergone second-look laparotomy after primary surgery and six courses of platinum-based chemotherapy were included in the study. Paraffin-embedded archival tissue samples of all cases were examined for deletion and over-expression of p53 gene by FISH and immunohistochemical methods, respectively. The relation between these findings and clinico-pathological prognosticators or survival of the patients were analyzed by the Fisher Exact chi2 test, Cox regression model and life table analysis. RESULTS: p53 gene deletion, related to single or double allele, was determined in all cases with a range of 6% to 75% of the cancer cells. When 40% was accepted as the cut-off ratio for the deletion rate, seven (26.9%) of the cases were observed to have p53 deletion. Although p53 over-expression was defined in 12 (46.1%) patients, four of whom were also accompanied by p53 deletion, there was no relation between the p53 deletion and over-expression (p>0.05). p53 deletion was also not related to any prognostic factors or survival of the patients (p>0.05). However, cases with p53 over-expression had significantly more advanced stage and higher-grade tumors, and shorter median survival (p>0.05-0.01). CONCLUSION: p53 gene mutation determined by over-expression of p53 protein has been suggested as an important prognostic factor for epithelial ovarian cancer, however, it has not always been accompanied by p53 deletion.
Adult↗
FISH analysis with locus-specific probes in sperm from two translocation carrier men.
Meiotic segregation of normal and derivative chromosomes was analysed in sperm samples from two balanced reciprocal translocation carrier men by use of dual-colour fluorescence in situ hybridisation (FISH) technique. The translocations were t(4;8)(p15;p12) and t(15;22)(q(23:q13.2), and the digoxigenin-labelled FISH probes were specific to either the translocated or centric segments of the chromosomes involved in the translocations. A total of 1000 spermatozoa for each probe were analysed and the modes of segregation were described on the basis of signals in each sperm cell. The mean frequency of alternate and/or adjacent-1 (adj-1) segregation types was 69.47%, whereas they were 30.51 and 78.70% for the adjacent-2 (adj-2) and alternate/adj-2 segregation types, respectively. This study illustrated that FISH is a valuable technique for analysing the meiotic segregation products of the heterozygotes in respect to aneuploidy risk.
Aneuploidy↗
The deletion of 22q13 region in both intracranial and spinal meningiomas in a patient (case report).
We present a 69 year old man with two simultaneous meningiomas in different compartment of neural axis, in both of which 22q13 locus is lost. Histologically the two tumours appeared to be different; meningotheliomatous and transitional with psammoma bodies, respectively. No numerical or structural chromosome abnormalities were seen in karyotype analysis of the cultured spinal and cranial meningioma samples. Since long arm structural aberrations and/or whole loss of chromosome 22 are frequently reported abnormalities of meningiomas, the tumours were also analysed by fluorescence in situ hybridisation (FISH) with different colour-labelled probes in respect to relevant chromosome. The metaphases and interphase nuclei of the samples were evaluated by the combined biotinylated 22q11 and digoxigenin-labelled 22q13 locus specific FISH probes, and 22q13 deletion was revealed in both of spinal and cranial tumour cells. In conclusion, since both tumours from the presented case show the same genetic alterations, multiplicity may be derived from the same clone of cells, and support the theory of development of multiple meningiomas from the spreading of tumour cells via cerebrospinal fluid as a possible mechanism.
Aged↗
22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.
Previous studies have indicated a wide spectrum of incidences of 22q11.2 deletions in isolated and syndromic (sporadic or familial) cases of conotruncal heart defects, whereby the detection rate of the deletion varied from 65% in one study to 0 in another. We analysed 110 patients with non-selective syndromic or isolated non-familial congenital heart malformations by fluorescence in situ hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five were of maternal origin and four of paternal origin. None of the 59 patients with isolated congenital cardiac defect had a 22q11.2 deletion. We compared the cardiac anomalies of our patients with a 22q11.2 deletion with those of previously published series and we describe types of congenital heart defects which appear to be often associated with a 22q11.2 deletion. The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGeorge/velo-cardio-facial syndrome (DG/VCFS).
Adolescent↗
Confined placental mosaicism in term placentae: analysis of 125 cases.
In order to determine the incidence of confined placental mosaicism (CPM) in term placentae and to show the presence of specific sites and the effect on fetal development, 125 placentae from uneventful pregnancies were analysed by cytogenetic methods. The incidence was at least 4.8 per cent and there were no specific sites on the placenta. Although the number of cases is still too small, we found CPM to be associated with intrauterine growth retardation in six cases.
Amniocentesis↗
Sister chromatid exchange analysis in acute leukemia patients.
This study was made to show the effects of acute leukemia (AL) and cytostatic drug therapy on chromosomes by sister chromatid exchange (SCE) analysis. Metaphase preparations from peripheral blood lymphocytes (PBL) of 15 patients [13 with acute nonlymphocytic leukemia (ANLL) and one with acute lymphocytic leukemia (ALL), and one with Hodgkin's disease (HD)] were harvested before and after treatment. Mean SCE frequency in the cells was 12.07 +/- 0.15 before therapy and was 14.04 +/- 0.32 after therapy as compared with 7.87 +/- 0.60 in controls. SCE values of patients with AL were significantly higher than those of controls, and this was more conspicuous in the cells that had undergone anticancer treatment.
Acute Disease↗
Effects of consanguinity on anthropometric measurements of newborn infants.
The effects of parental consanguinity on gestational age and birth measurements were evaluated on 2880 newborn infants. Consanguineous marriages were considered in three subgroups: first-cousin, first-cousin-once-removed and distant-cousin marriages, versus non-consanguineous marriages. Anthropometric parameters were weight, length, leg length, head, chest and mid-arm values obtained within 24 h of birth. No significant differences were found concerning gestational age. Although anthropometric values were slightly less, especially in children from first-cousin couples, the differences were insignificant for all groups. It was concluded that blood-relationship alone does not affect such multifactorial traits.
Anthropometry↗
Chromosome analysis in pleural effusions. Efficiency of this method in the differential diagnosis of pleural effusions.
Various laboratory methods are being used to acquire diagnosis in pleural effusions. However, about 20% of the effusions cannot be diagnosed reliably. Cytogenetic analysis in pleural effusion is not used routinely, although many numerical and/or structural chromosome abnormalities have been observed in malignant pleural effusions. In this study, a total of the 61 pleural effusion samples, 34 malignant which included 19 diffuse pleural malignant mesothelioma, 15 metastatic malignant pleural effusions and 27 benign, were analyzed by direct chromosome analysis method. To the findings obtained in the study, 85.3% (29/34) of the 34 patients with malignant pleural effusion had numerical and/or structural abnormalities, and 3 of them had no mitosis. The patients who had benign pleural effusion indicated no numerical and/or structural abnormalities. We have concluded that if a pleural effusion cannot be reliably differentiated by the usual laboratory methods and especially malignancy is strongly suspected, cytogenetic analysis can be used to differentiate malignant effusions from benign effusions with a small rate of error, and also it can indicate that more invasive diagnostic procedures are necessary.
Adult↗
Dacryocystitis associated with osteopoikilosis.
We report five members of a family with dacryocystitis associated with osteopoikilosis. The inheritance is autosomal dominant. Review of the literature revealed no other report of this kind of association. Osteopoikilosis must not be considered as a coincidental radiographic finding but as part of a systemic disorder.
Adolescent↗
Consanguineous marriages among parents of Down patients.
In order to reveal if there is an effect on the genesis of meiotic- or early zygotic non-disjunctions, data related to 1598 Down syndrome patients from 1578 families studied in five different genetic centers in Turkey are reported. Parental consanguinity and the inbreeding coefficient were found to be lower among patients of 21-trisomics than in parents without Down offspring. It was concluded that available information does not support the presence of a "non-disjunction gene" in man.
Consanguinity↗
The effect of consanguinity on the reproductive wastage in the Turkish population.
Analysis of data from 56,664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths.
Abortion, Spontaneous↗
Consanguineous marriages in the Turkish population.
This study of 55,175 marriages in Turkey, conducted from 1970 to 1987, showed an overall rate of consanguineous marriage of 21.21% (mostly first-cousin liaisons) and an inbreeding coefficient of 0.0064532. However, considerable differences between areas are apparent.
Adolescent↗
Experimental tractional retinal detachment: an immunohistochemical study.
PURPOSE: This study investigated the pathogenesis of tractional retinal detachment associated with proliferative vitreoretinopathy in an experimental model, using immunohistochemical staining. METHODS: To produce tractional retinal detachment in rabbit eyes, homologous cultured fibroblasts obtained from the gluteal muscle fascia were injected intravitreously. Right eyes of 20 rabbits in the study group, and 7 rabbits in the control group were followed for 26 days at weekly intervals with indirect ophthalmoscopy and fundus photographs. RESULTS: During the follow-up period grade III tractional retinal detachment developed in 11 eyes, grade II in six, and grade 1 in three eyes. The spindle-shaped cells contributed predominantly to the development of epiretinal membrane, and a smaller number of round small and large cells. In 10/17 grade II and III eyes, spindle-shaped cells had vimentin, 7/10 had actin, 5/17 had GFAP, 4/17 had S-100 protein immunoreactivity. Round small and large cells expressed S-100 protein, GFAP and actin in 5/17 eyes. Epiretinal membrane appeared to be formed by spindle-shaped fibroblast-like cells and small and large round glia-like cells. Actin positivity of spindle-shaped and round cells was taken as a marker of contractile elements of the cells and their locomotional features. CONCLUSIONS: These features are believed to be involved in contraction of the membrane and retinal detachment.
Actins↗