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Biomedical subjects

C Ozkinay

Publications and source records attributed to C Ozkinay.

At least 19 recordsLinked to original sources
PubMed2006

Prenatal diagnosis of de novo unbalanced translocation 8p;21q using subtelomeric probes.

We report an unbalanced translocation involving chromosomes 8 and 21 in a fetus showing ultrasonographic abnormalities in the second trimester of pregnancy. A 41-year-old pregnant woman, gravida 1 para 0, was referred to the Genetics Clinic at the 16th week of gestation because of advanced maternal age and fetal pelvicaliectasis on ultrasonographic examination. Pregnancy had occurred following ICSI treatment. After genetic counseling amniocentesis was performed. Fetal karyotype analysis revealed a 46,XY,8p+ karyotype. Ultrasonographic examination was repeated at the 20th week of gestation and showed intrauterine growth retardation, ventriculomegaly, cerebellar structural abnormality and pelvicaliectasis. Chromosomes of both parents were normal. Molecular cytogenetic studies (FISH) using chromosome-specific subtelomere probes showed a terminal deletion of 8p and trisomy of the 21q subtelomeric region. Further analysis with Down Syndrome specific region probes revealed two signals. The couple decided to terminate the pregnancy. This is the first prenatally diagnosed case of unbalanced t(8p;21q) of de novo origin.

Abortion, Induced↗
PubMed2006

Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.

To screen a selected group of children with idiopathic mental retardation for subtelomeric abnormalities using the fluorescent in situ hybridization (FISH), which has been reported to be cost-effective in routine applications. We also aimed to assess the availability of the scoring system which is used for selection of those children for FISH analysis. A total of 30 children aged 3-16 years with idiopathic mental retardation (moderate to severe) and normal karyotypes were included in this study. The children whose parents had consanguineous marriages were excluded from the study. All cases were evaluated using the scoring system published by de Vries et al. (5) Forty-one subtelomeric regions for each case were analyzed by fluorescent in situ hybridization. One case with a score value 5 presented terminal deletion of chromosome 9p by FISH (3.3 %). Analyzing chromosomes of the same case with higher resolution G-banding showed the same abnormality. The frequency of subtelomeric abnormalities in our study group was much lower than the frequencies reported in other studies and the scoring criterions suggested by de Vries et al. have not effectively increased our subtelomeric deletion detection rates. Autosomal recessive disorders may be a more common reason compared to subtelomeric abnormalities in this group of patients in the countries where consanguinity rate is high. Laboratories may be encouraged to analyze high-resolution G-banded karyotypes in those cases. Moreover more effective selection criteria for FISH are suggested by establishing thorough genotype-phenotype correlations besides case reports with different subtelomeric abnormalities.

Adolescent↗
PubMed2005

Two extra euchromatic bands in the qh region of chromosome 9.

Chromosome analysis in a fetus revealed an abnormal appearance of chromosome 9. The secondary constriction region of chromosome 9 was very large and two separate G+ bands were observed within this region with GTG banding. Parents' karyotypes showed maternal inheritance of this variant chromosome 9. Two G+ bands were stained negative with C banding both in the fetus and in the mother. The mother was phenotypically normal. Regarding phenotypically normal mother, normal fetal ultrasonographic findings and the similar cases described before in the literature it was considered that the fetus would be normal. Physical examination of the baby was normal after birth as expected. The existence of two G+ bands in 9qh was considered to be a normal variant in humans.

Adult↗
PubMed2004

Trends in cytogenetic prenatal diagnosis in a reference hospital in Izmir/Turkey: a comparative study for four years.

The aim of the study was to investigate the major changes in the indications, culture success and abnormality rate for conventional cytogenetic prenatal diagnosis on amniotic fluid samples between the period of January 1998 and December 2001 in Izmir. The cytogenetic laboratory provides a prenatal service to obstetrics-gynecology departments of different hospitals in Izmir. A limited number of patients (6-8 per week) is randomly accepted for prenatal cytogenetic study. Over the 4 years period 1190 prenatal cytogenetic tests were performed in our center. The most common indication was advanced maternal age for each year. However its rate has increased significantly within the years (35.68% in 1998, 61.38% in 2001), while the rate of both triple test and ultrasound scanning indications decreased. Culture success rates have improved (97.97% in 1998, 99.74% in 2001). Comparing the first two years to the last two years the rate of abnormal cytogenetic results decreased significantly (3.83% in 1998-99, 2.48% in 2000-01). The major reason for this decrease is probably related to the changes in indications throughout the years.

Amniocentesis↗
PubMed2003

Paracentric inversion in the short arm of chromosome 1. Report of a family and review of the literature.

In general, carriers of paracentric inversions are phenotypically normal, although individual reports describe like occurrence of infertility, miscarriages and mental retardation in inversion carriers. We present a family with paracentric inversion of 1p [karyotype: 46,XY/XY, inv(1)(p13.2p36.2)] in 7 of the 12 investigated family members. The index patient, a four year-old boy was referred for motor and mental retardation. The possible relationship between the paracentric inversion and the MR/MCA syndrome in the index patient of this family is briefly discussed.

Child, Preschool↗
PubMed2000

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection.

UNLABELLED: Acquired protein S deficiency and lupus anticoagulant have been described in children with varicella who had purpura fulminans, disseminated intravascular coagulation or thrombosis. The aim of this study was to investigate the natural anticoagulants, hypercoagulability markers, other parameters of coagulation and fibrinolytic systems, and the presence of the lupus anticoagulant in otherwise healthy children with acute varicella infection. Blood samples were obtained from 17 children with varicella without thrombosis during acute varicella infection and 1 mo after onset. Coagulation tests included determinations of the prothrombin time, the activated partial thromboplastin time, the thrombin time, the thrombin antithrombin complex, the prothrombin fragment F 1 + 2, the tissue plasminogen activator, the plasminogen activator inhibitor-1, protein C activity and free protein S antigen. Antiphospholipid antibodies were determined in enzyme-linked immunosorbent assays. The mean free protein S concentration in the acute phase (0.63 +/- 0.16 U/ml) was significantly lower than that of the concentration determined 1 mo later (0.82 +/- 0.17 U/ml). The children with acquired free protein S deficiency also had a lupus anticoagulant. Elevated concentrations of the prothrombin fragment F 1 + 2, the thrombin antithrombin complex, D-Dimer, tissue plasminogen activator and plasminogen activator inhibitor-1 were detected in most of the children. CONCLUSION: There is a significantly increased prevalence of lupus anticoagulant, a significantly reduced plasma concentration of free protein S and elevations in coagulation and fibrinolytic parameters in otherwise healthy children with acute varicella infection.

Acute Disease↗
PubMed1999

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↗
PubMed1997

A case of Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.

Abnormalities, Multiple↗
PubMed1996

Orofaciodigital syndrome I: a case report.

Orofaciodigital syndrome I is a syndrome, which affects the maxillofacial region. Abnormally developed vestibular frenulum, cleft tongue, asymmetric cleft palate, pseudocleft of the upper lip and hypoplasia of the nasal cartilages are some of the other features. There are some malformations in foot and hand fingers and also mild mental deficiency is present. OFD I syndrome follows an chi-linked dominant mode of transmission trait limited to females and lethal in males. Because of the esthetic and functional manifestations in the maxillofacial region, the syndrome has great importance for pediatric dentistry.

Child↗
PubMed1995

A case of Marden-Walker syndrome with Dandy-Walker malformation.

A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging.

Brain↗
PubMed1992

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↗