Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey

Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85.5% had Turner karyotypes. About 72.2% of the abnormalities were numerical aberrations and 27.8% were structural aberrations. The most frequent karyotype was monosomy X, which was found in 135 females (63.7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19.1%), and 17 deletions of the short and long arms of chromosome X (8.0%). One case of Robertsonian translocation and one case of mosaic TS with marker chromosome were detected. Conclusion: This study shows the frequency and distribution of karyotypes in females with TS. There is great value to be gleaned from studies of females with TS in furthering our understanding of the atypical clinical features associated with TS. Studies involving genetic analyses will be necessary to examine gene expression profiles in girls with TS and identify potential candidate genes underlying the atypical clinical features associated with TS.

Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions.

In this retrospective study, karyotype results of 1510 couples with a history of recurrent spontaneous abortion were evaluated. The study was conducted at Balcali Hospital in Adana region of Turkey. For all cases, peripheral blood lymphocytes were cultured for chromosome study using the standard method. Chromosome aberrations were detected in 62 couples (4.1% of all couples). At an individual level, chromosome aberrations were found in a total of 65 cases (41 females and 24 male cases), with structural chromosomal aberrations in 58 cases including balanced translocations in 30 cases, Robertsonian translocations in 12 cases, deletions in seven cases, inversions in nine cases and numerical chromosome aberrations in seven cases. The results of the study indicated that structural aberrations, particularly translocations, were the most common type of aberration observed among couples who had experienced recurrent spontaneous abortions and that these couples might benefit from cytogenetic analyses.

Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea.

STUDY OBJECTIVE: To estimate the frequency and the type of chromosomal abnormalities (CA) in patients with primary (PA) and secondary amenorrhea (SA). DESIGN: This retrospective study was comprised of patients had been referred to our laboratory between 1990 to 2008 and designed as original article. SETTING: Medical Faculty of Cukurova University in Turkey. PARTICIPANTS: Chromosomal analysis was carried out on 393 patients with PA and SA that were referred to Cytogenetic laboratory of Medical Biology and Genetic Department, Faculty of Medicine, Çukurova University. INTERVENTIONS: Lymphocyte culturing depended karyotyping. MAIN OUTCOME MEASURES: Standard lymphocyte culturing procedure and karyotyping was performed to all samples. RESULTS: PA and SA were identified in 393 patients. The karyotype was normal in 337 cases (85.8%) and abnormal in 56 (14.2%) patients. CAs were found in 54 (13.7%) and 2 (0.5%) of women with PA and SA, respectively. Females carrying rearrangements between autosomal and sex chromosomes were detected in 2% (8/393). The numerical abnormalities of the X chromosome were detected in 39.3% (22/56) (monosomy and mosaic). Structural abnormalities of the X and the other chromosomes were detected in 25.5% (13 of 56). Structural mosaicism of X chromosome was found in 5.4% (3 of 56). Male karyotype (46, XY) was found in 33.9% (19/56). The most frequently detected abnormality were X chromosome monosomies or mosaics. CONCLUSIONS: Our study revealed that some causes of amenorrhea could be due to CAs. Therefore, cytogenetic study should be important test in the evaluation of patients with PA or SA. The most common abnormality seen is 45,X karyotype (monosomy X/Turner Syndrome) and its variants.

Correlation of clinical phenotype with a pericentric inversion of chromosome 9 and genetic counseling.

OBJECTIVE: To describe the history of 157 carriers of pericentric inversions on chromosome 9 [inv9] with karyotype analyses and evaluate the significance of these findings. METHODS: We studied the incidence, clinical significance, and genetic counseling of inv9 p11;q12, p11;q13, and p11;q21 patients who were referred to our laboratory from various clinics of the Medical Faculty, Cukurova University, Adana, Turkey retrospectively from 157 cases of 15528 cytogenetic analyses collected between May 1993 and February 2007. RESULTS: We found the incidence of inv9 to be 1.01%. From a review of 157 cases with inv9, it is concluded that the incidence of the spontaneous abortion group 30.6% appeared to be high among the adult patients with inv9. The 17 cases were found to have mental retardation, which gave an incidence of 10.8%. We here report the clinical and cytogenetic findings of 157 inv9 cases that had different problems. CONCLUSION: Although, inv9 has been considered to be a normal variant, our observation implies a possible association between inv9 and abnormalities, suggesting that a susceptibility locus for these phenotypes may be located at the breakpoint of the inversion on chromosome 9, which may lead to cloning of a susceptibility gene for unspecified abnormalities. These findings could be used widely in clinical genetics, and as an effective tool for genetic counseling and reproductive guidance.

The role of psychological factors in alopecia areata and the impact of the disease on the quality of life.

BACKGROUND: The role of psychological factors in the pathogenesis of alopecia areata (AA) has long been the subject of debate. Numerous studies have provided controversial results. AIM: This case-control study was undertaken to determine the significance of stressful life events and other psychological factors in the etiopathogenesis of AA. The impact of the disease on the quality of life was also assessed. METHODS: Fifty-two adult patients (18 females and 34 males) diagnosed with AA and 52 age- and sex-matched individuals selected from hospital staff without any hair loss (control group) were evaluated using the major life events scale, Beck depression and Beck anxiety inventories, and the Short Form-36 health survey (SF-36). In addition, comparison was performed between two patient groups created according to whether or not they linked emotional trauma with their AA attack. RESULTS: There was no statistically significant difference between the patient and control groups with regard to the total scores of stressful major life events, depression, and anxiety. Of the eight subscales on SF-36, vitality and mental health scores were higher in the control group, whereas social functioning scores were higher in the patients. The total number of stressful life events was higher in patients who attributed their disease to a stressful life event than in those who did not. CONCLUSIONS: It appears unlikely that anxiety and depression play a major role in the etiopathogenesis of AA, but stressful life events may act as a trigger in the onset and/or exacerbation of the disease. Furthermore, AA seems to have a partly negative impact on the health-related quality of life.

[Psychiatric and psychosocial aspects of chronic renal failure]. / Kronik böbrek yetmezliginin psikiyatrik ve psikososyal yönleri.

Primary treatment modalities of chronic renal failure (CRF) are dialysis and renal transplantation. According to 1997 data there were 10,000 hemodialysis and 1893 continuous ambulatory peritoneal dialysis (CAPD) patients in Turkey. On a yearly basis 360 renal transplantation procedures take place. In deciding for one of the treatment modalities, medical criteria are of partial importance. On the other hand, in terms of psychosocial adjustment and functioning and quality of life, even the expert clinicians emphasize that is very difficult to predict which treatment modality is best for the patient. While some researchers report that psychiatric morbidity and disability of CRF are high and there is no difference between the chosen treatment modalities, most of them report that transplantation is more advantageous than dialysis, and quality of life is better in transplant patients. On the other hand, some researchers claim that psychological adjustment varies during the treatment of CRF and psychiatric symptoms decrease with time. In this paper, psychiatric and social problems in CRF and the effect of these problems on quality of life are reviewed. According to our literature review covering the past 30 years, there have been many researchers for the CRF patients' psychosocial difficulties. Also most of this research work compare treatment strategies with respect to psychiatric morbidity and quality of life.

Health-related quality of life in Behçet patients with ocular involvement.

PURPOSE: Health-related quality of life (HRQOL) is an important outcome factor in chronic diseases such as Behçet syndrome. We aimed to investigate the relation of HRQOL to the duration of illness, mental state, and visual acuity of patients with Behçet syndrome. METHODS: We conducted a cross-sectional clinical trial of 45 consecutive Behçet patients with ocular involvement. The control group consisted of an age-, sex-, and education-matched group of 45 healthy individuals. All patients and the controls had been given a complete ophthalmic examination. In addition, they completed a questionnaire comprising the SF-36 Health Survey, Beck Depression Inventory, and Beck Anxiety Inventory. Eight multiple regression analyses were carried out in the patient group to determine whether total anxiety scores, total depression scores, duration of the disease, and visual acuity predicted the dependent variable SF-36 subscales. RESULTS: Using the analysis of variance statistical method, comparisons of the patient and the control groups for depression, anxiety, and the subscales of the SF-36 Health Survey indicated a statistical significance for this battery of tests. CONCLUSIONS: Behçet patients with ocular involvement are susceptible to anxiety and depression when compared to age and sex matched controls. It is important for the ophthalmologist to know that changes in the mental state of his patient may trigger a new ocular attack, and to be aware that these changes may play a critical role in the management and preventive measures for Behçet syndrome.

[Narcissistic personality disorder and factitious disorder on a borderline personality organization basis: a psychoanalytic psychotherapy process]. / Sinir kisilik organizasyonu temelinde narsisistik kisilik bozuklugu ve yapay bozukluk: psikanalitik psikoterapi süreci.

The aim of this presentation is to summarize the changes occurring during the psychoanalytic psychotherapy of a dystonic (due to anoxic injury), 25-years-old female patient both from the standpoint of diagnosis and dynamics as well as the changes occurring in the therapist. The patient was finally diagnosed as having narcissistic disorder with factitious traits on a borderline personality organization and was twice hospitalized for a wide variety of symptoms, such as suicidal attempts, auditory and visual hallucinations, animistic thoughts, obsessive compulsive symptoms, dissociative episodes, and fear of abandonment. Hospitalized treatment was started on a weekly basis. Avoidance of interpretation, acceptance of her fantasies, outbursts and hostile behaviour helped the patient to reveal herself as a helpless and lonesome person trying to get attention with pseudo-symptoms created throughout the therapy. The patient finally established a trusting relationship with the therapist. This, in turn helped the therapist to become more attuned to the patient's difficulties. It is obvious that establishing a positive working relationship is the basis of psychotherapy and that even on a once a week basis significant changes can occur in a patient's attitude towards his/her life and future. Another point emphasized in this paper is the importance of supervision, which helped the therapist to overcome prejudices and become more flexible.