ABSTRACT
Familial Mediterranean fever [FMF] is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009. We enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. Among the 446 patients, 103 [46.6%] had a heterozygous genotype, 44 [19.9%] had a homozygous genotype, and 74 [33.49%] had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V [46/221]. Of the included 446 patients, 218 [48.87%] were male and 228 [51.12%] were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles. This study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis
ABSTRACT
Translocation, as the name implies, is the movement of a chromosomal segment to a new location in the genome. Once a structural chromosome abnormality has been detected, prenatal diagnosis in subsequent pregnancies and termination of pregnancy in the case of an unbalanced fetal karyotype is recommended. A woman was referred at 18 weeks of gestation to the Medical Genetics Clinic for an amniocentesis because of advanced maternal age [35], triple test risks and recurrent abortions. Prenatal ultrasound was normal. The amniocentesis revealed a male karyotype with an apparently balanced translocation:46, XY, t[7;15] [q11.23; q26.3]. To our knowlegde, this is the first case in the literature of prenatal diagnosis of the unique translocation t[7;15] [q11.23;q26.3] in a fetus.