Role of Family History of Neoplastic Disorders in 100 Patients with Primary Breast Cancer

To find whether the family history of neoplasia is a risk factor for breast cancer [BC] in Iran, 100 patients with primary BC were studied. The mean +/- SD of age of the patients was 50 +/- 11 years. In 52% of them left and in 48% right breast was involved. The most frequent pathologic classification was infiltrating ductal carcinoma [IDC]. Tumour size ranged between 0.4 to 6 centimeters. Sixty two% of the subjects had axillary lymph node involvement, and 42% had family history of at least one neoplastic disorder, excluding breast cancers in their pedigrees. The total number of neoplasias was 108 in which BC 27%, colon, uterus, and leukaemia, each 7% were among the more frequent cancers in the pedigrees, and among 29 cases with BC, 19 pedigrees had just one case of BC. The origin of neoplasia was more maternal, with maternal/paternal ratio of 34/6. Comparative study using 100 healthy control subjects, revealed a strong association between a family history of any neoplasia and occurrence of breast cancer in family [crude OR = 7.63 with P = 0.0001; in cases 42 out of 100 had family history of neoplasia versus 9 out of 100 in controls]. Further studies needed to evaluate the role of family history of neoplastic disorders for the risk of developing BC

Perrault's syndrome: a Clinical and genetic investigation of three sisters

Perrault's syndrome [P.S] is rare. The combination of gonadal dysgenesis and hearing loss was accompanied by 46,XX karyotype in three sisters with parental consanguineous marriage Genetic investigation revealed normal female.karyotype, positive Barr and negative fluorescence [F] bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization [FISH], with application of Xcen probe, showing the presence of two signals in 95% of the cell of these 3 Iranian sisters. The pedigree showed parental consanguinity [first cousin] with an autosomal mode of inheritance for both Perrault's syndrome and hearing loss. These findings together with normal thyroid function, serum prolactin, high level of serum gonadotropins is similar to the menopausal period in all 3 sisters. Estrogen and progesterone were recommended for all 3 sisters. This combined therapy led to mensturation and after a few months their breasts were normally developed. For further management cochlear implantation, speech therapy and training courses were suggested in order to improve hearing and intellectual abilities

Down's syndrome: cytogenetic studies in 150 case in Tehran

Cytogenetic studies were performed on 150 cases of Down's syndrome [DS] in lran. The standard trisomy 21 was found in 132 [88%] and translocation-trisomy 21 [+21] in 18 [12%] patients, i.e., t [21,21] in 1[0.63%] and mosaicism in 17[11.33%] cases. The comparison of the frequencies for mosaicism between different populations such as Denmark, Hungary, Egypt, Iraq, India, Australia and Iran demonstrated a difference in geographic distribution. There was a high incidence in the north of Europe towards Egypt and Iraq which decreased towards Iran and further towards the eastern region in the Indian ocean and India and further decreased towards Australia. Statistical analyses demonstrated significant differences between the data in Iran and Copenhagen, Hungary and Australia for mosaicism and translocation +21, and India, for translocation +21. The occurrence of translocation +21 decreased significantly from Denmark towards Egypt in Africa and Iraq in southwest Asia, then it increased from Iran towards Australia in the Pacific ocean.The comparison of cells having satellite associations [SA], significantly indicated the involvement of two and three SAs in DS cases. The study on the position of chromosomes in the metaphase plate, the occurrence of chromatid breaks and endoreduplication did not present any significance in DS cases

Cytogenetic prenatal diagnosis on 66 chorionic villus samples in Iran

A total number of 66 chorionic villus samples were cytogenetically investigated. The samples consisted of 30 experimental cvs from spontaneously aborted materialand 36 from live gestations.80% of the samples were successfully grown, of the 30 cases 40% [12] and 33% [10]contained a normal female and a normal male karyotype, respectively, 3.3% [1] and3.3% [1] had abnormal karyotypes [47,XX, + 21; 47, XY, + 18], respectively, and 16% [6] of the cultures did not grow of the 36 CVS, 80. 5% of the trophoblasts grew. 50% and 30.5% had normal karyotypes with 46, XY and 46, XX chromosome constitutions respectively, of those with a male karyotype, one case was revealed to have two mitoses with 47+Xy, +21 karyotype and was considered to be a Mosaic with a minor abnormal clone. One case [2.7%] was a twin; 5.5% of the samples did not grow and 11.1% of the villi were inadequate. No serious complications occurred after CVS. 12 girls and 9 biys were delivered at term and cytogenetic findings on the CVS were postnatally confirmed for normal cases and even for a Mosaic case

Cesarean section and the Cytogenetic investigations of an ischiopagus tetrabrachius tripus

A case of ischiopagus tetrabrachious tripus, born in a Tehran hospital by Cesarean section is reported. Some variations of form from described cases in the literature are outlined. The cytogenetic findings indicated Homokaryotypic MZ twins with 46, XX chromosome constitution. Dermatoglyphic characteristics are presented in the text