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Presents a study that analyzed genetic mutations and deletions in cases of chronic myeloid leukemia (CML) to establish whether there was consistent molecular genetic alteration in the progression of the disease. Background on CML; Examination of DNA sequences of fragments with anomalous single strand confirmation polymorphism; Analysis of the mutated genes of CML using fluorescence in situ hybridization analysis.

Background/aims: Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common., Methods: Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFV gene mutations was compared among patients with osteoarthritis and a previous healthy group from our center., Results: One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyses, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls., Conclusions: In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.

Gorlin-Chaudhry-Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4-year and 6-month-old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array-CGH analysis did not show pathological deletions or duplications., (Copyright © 2013 Wiley Periodicals, Inc.)

It is well established that there are people with higher risk of developing acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Mediterranean fever (MEFV) gene mutations might be one of the genetic predisposition factors in the development of ARF/RHD since defect in familial Mediterranean fever (FMF) patients is proposed to be heightened inflammatory response to certain stimuli. Previous clinical observations suggested a relationship between FMF and ARF/RHD. The aim of this study was to investigate the role of the MEFV gene mutations in the susceptibility to RHD in Turkish patients. A total of 100 patients with RHD and 100 healthy controls were included in the study. Diagnosis of RHD was based on echocardiographic findings in which a predominant mitral stenosis was used as an inclusion criterion. Genetic analysis was carried out by sequence analysis investigating two hot spots (exons 2 and 10) for MEFV mutations. Mutation analysis showed that 22 RHD patients (22%) and 24 healthy controls (24%) carried at least one mutated allele. MEFV mutations were identified in 22 of 200 (11%) chromosomes in RHD patients while 26 of the 200 (13%) chromosomes of healthy controls were found to carry a mutated allele. No difference was found in allele frequencies and their distribution between the patients and healthy controls (p = 0.54). MEFV mutations are not associated with a predisposition to develop RHD in adult Turkish patients.

A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.

Although the incidence of Hodgkin lymphoma (HL)--a lymphoid tissue malignity--increases in the presence of several viruses, particularly EBV, as well as with autoimmune diseases and following transplantation, although to date, the exact etiopathogenesis is not known. The higher frequency of HL among family members suggests involvement of genetic factors in its etiology. Studies aiming to elucidate the etiopathogenesis of patients with familial HL (FHL) have reported that human leukocyte antigen (HLA) haplotypes might be involved. In this case presentation, the associations between HLs diagnosed in a father of consanguineous marriage and his two children and HLAs in other family members were investigated and the findings are discussed in view of the published literature; no direct association was found between HLA alleles and the development of the disease in the present case with familial HL.

A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity.

Objective: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men., Design: A controlled prospective study., Setting: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey., Patient(s): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors., Intervention(s): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization., Main Outcome Measure(s): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men., Results: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls., Conclusion(s): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI).

Anthracyclin-based regimens and all-transretinoic acid (ATRA, tretinoin) as differentiating agent are commonly utilized for the treatment of acute promylelocytic leukemia (APL). There are many adverse effects that may be seen during the use of ATRA in patients with APL. Of these, ATRA-induced myositis is rarely described in adults and rare in the children with APL. Herein, we report an 11-year-old girl with APL who developed ATRA-induced myositis during induction treatment.

We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.

Immunosuppression is a well-recognized cause of skin tumors, in particular squamous cell carcinomas (SCC). In patients with hematological malignancies undergoing chemotherapy, SCC has been reported late in the course of the disease or many years after completion of treatment. Here we report a patient with acute myeloid leukemia who developed a SCC of the tongue while receiving the third course of induction chemotherapy. This is the second such case in the medical literature. The role of immunosuppression, chemotherapy, the malignancy itself and possible genetic predisposition is discussed and the literature on this topic is reviewed.

This report presents a case with partial trisomy 18q resulting from de novo unbalanced translocation of chromosomes 15 and 18 displaying the features of pure trisomy. This is the first reported case with partial trisomy 18q due to unbalanced translocation between chromosomes 15 and 18. Clinical findings of our case have been compared with the reported cases' had partial trisomy 18q and the importance to recognize the cases with chromosome abnormalities to give genetic counseling and prenatal diagnosis for subsequent pregnancies has emphasized.