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ABSTRACT: The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble those in Turner syndrome.We, herein, presented a 15 years-old girl withshort stature and primary amenorrhea, who was referredto cytogenetic laboratory. Through karyotipe analysis performedby Giemsa banding technique, the patient wasdetermined to have positive Barr body and 46,XX,dup(X)(q21.3q24) chromosomal constitution. Case was discussedaccording to information of present literatures.
Dicle Medical Journal. 01/2010;
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ABSTRACT: In this study, we are presenting the results of cytogenetic analysis and molecular cytogenetic analysis (FISH) of the couple and their family, who were referred to our ge-netic diagnostic laboratory and had bad obstetrics his-tory. We found a normal karyotype (46,XY) in male, and A de novo complex chromosome rearrangement found in a phenotypically normal female was characterized by G-bands, FISH with probes. Her chromosome structure was 46,XX,der(18;22)(18pter→p11.1::22p11.1→qter) del(18)(:p11.1→qter).To determine the parental origin of translocation, we ex-amined the individuals of the family, and we found that the translocation was de novo. We concluded that this carrier family might be due to the unbalanced distribution of translocation, during gamete formation and prenatal diagnosis recommended for their future pregnancies.
Dicle Medical Journal. 01/2009;
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ABSTRACT: In this study, a case report is presented with Turner’s Syndrome with isochromosome carrier, Juvenile Osteoporosis and spontaneous fracture risk. As regards the case, who was referred to Genetic laboratory of Medical Biology Department, Medical Faculty, Dicle University, with pre-diagnosis of growth and development retardation and primary amenore, on average 10 preparats were prepared after performing peripheric blood culture method for chromosomal analysis. The preparats were stained with Giemsa Banding Techniques , and were studied. As a result of chromosomal analysis of the case, whose X-chromatid was positive, the chromosom constitution was determined to be 46,X,i(X)(qter→q10::q10→qter) and diagnosed as Turner’s Syndrome. In the assessment of the results obtained from lumbar vertebrae L1, L2, L3 and L4 which were subjected to osteo-densitometric analysis, BMD was found to be 0.592g/cm²and it was concluded that it might be Juvenil Osteoporosis with spontaneous fracture risk due to bone mineral density loss of 31% (Z-score: -27) according to WHO criteria.
Dicle Medical Journal. 01/2008;
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ABSTRACT: A patient who had two marriages previously applied to the Urology clinik of our hospital with complaint of infertility. A genetic study was carried out on the 27 year-old male patient with pre-diagnosis of Klinefelter Syndrome. Through karyotipe analysis performed by GTG banding technique, the patient was determined to have positive Barr body and 47,XXY/48,XXXY mosaic chromosomal constitution.
Dicle Medical Journal. 01/2007;
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ABSTRACT: The cytogenetic types of Down syndrome, which is a widespread disease and the most common cause of mental retardation among live-borne babies, vary according to the risk of recurrance and has been a guide for the genetic counseling. This study was conducted between January 1996 and December 2006 in our department. The study included 584 patients with clinical diagnosis of Down syndrome. There were 232 (39.7%) female and 352 (60.3%) male patients. The aim of the study was to investigate the cytogenetic types and its incidence in this group of patients. By using peripheral blood culture method for cytogenetic analysis, it was found that 128 cases (21.9%) had normal karyotypes, whereas 456 (%78.1) cases had karyotype of Down syndrome. There was regular type in 432 patients (%94.7), translocation type in 14 (%3.1) [8 t(14;21), 6 t(21;21)], mosaic type in 4 (%0.9), and 6 patients (%1.3) associated with inv(9) with regular type karyotype in patients with Down syndrome. Four of 14/21 type of translocations were familial (50.0%) and other 14/21 and 21/21 types translocations were found to be de novo. The male to female ratio was 1.64: 1 (283 male:173 female), mean age of mothers was 34.25 ± 7.76 and of mothers having translocation type of Down syndrome, it was 28.29 ± 5.0.The results of this study point out the necessity of cytogenetic analysis for appropriate genetic counseling in establishing the clinical diagnosis of Down syndrome.
Dicle Medical Journal. 01/2007;
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ABSTRACT: In this study, we present the results of a cytogenetic analysis performed on a couple and their family, who were referred to our clinic with three abortions in their reproductive history. In four individuals of the family, a balanced reciprocal translocation [46,XY,t(5;10)(p15.3;q24), 46,XX,t(5;10) (p15.3;q24)], which formed between the short-arm of the chromosome 5 and long-arm of the chromosome 10, was determined. We concluded that the recurrent abortions in the history of these carrier individuals might result from the unbalanced distribution of translocation during gamet formation.
Dicle Medical Journal. 01/2006;
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ABSTRACT: Chromosome analysis and buccal smear were performed to two siblings refered to Genetic Laboratory of Medical Biology Department with pre-diagnosis of Ambiguos Genitalia. The patients were clinically examined in the Department of Child Surgery. For chromosome analysis, cell culture was performed. The preparates were then stained by Giemsa Technique (GTG), and 25-cells were counted for each patient. In addition, 25 metaphase chromosomes were karyotyped for each one, and 46,XY karyotype was identified. The cases were evaluated as male pseudohermaphrodism and urogenetical reconstruction was performed.
Dicle Medical Journal. 01/2006;
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ABSTRACT: The aim of this study was to determine the chromosomal abberations and their incidence in non-consanguineous couples with a history of two or more than two spontaneous abortion. In the study, we carried out cytogenetic analysis on 434 couples. Patients detected with chromosome abnormality were evaluated according to their pedigree analysis, and also patients’ relatives were screened for the same abnormality. Peripheral blood were taken from patients, then performed with lymphocyte culture and stained by binded using Giemsa-banding method. For each individual, 20-30-cells chromosomes were counted and around 5-10 well-binded metaphase chromosomes were karyotyped for numerical and structural chromosomal aberrations. Of 434 couples investigated, 30 (6.91%) were found to have chromosomal abnormality, in one of couples partners. In 13 of couples (2.99%), one of partners was found to be balanced translocation carrier. Of these, 7 (1.61%)were found to be reciprocal carrier, while 6 (1.38%) Robertsonian-type balanced translocation carrier. Gonadal mosaicism was found in 3 couples (0.69%), pericentric 9 inversion in 8 couples (1.85 %), while 6 couples showed different chromosomal structure from each other. These chromosomal aberrations may cause of abortion due to high incidence in general population.
Dicle Medical Journal. 01/2006;
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ABSTRACT: The Marfan syndrome is an inherited, autosomal dominant disorder that affects the skeletal, ocular and cardiovascular systems. The patient had clinical diagnosis of Marfan syndrome in the Department of Endocrinology. Chromosome analysis was performed on a case referred to Genetic Laboratory of Medical Biology Department with pre-diagnosis of Marfan syndrome. For chromosome analysis, peripheral blood culture was performed. The preparates were stained by Giemsa Technique (GTG), and 25 cells were counted. Twenty metaphase chromosomes were karyotyped, and 46,XY,t(8;20)(q2;q13) karyotype was identified in the case . As a result of analysis, his parents were found to have normal karyotype, thus, it was concluded that the translocation in our case is de novo.
Dicle Medical Journal. 01/2006;
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ABSTRACT: 40 days old case who were diagnosed with ambigious genitalia were sentto laboratory of cytogenetics. Mother was 26 years old and have to alivechildren and case were the second child and applied to Child SurgeryDepartment due to continiously vomiting and uneasy conditions. Sexualdevelopment were as male on physical examinations. Cell culture wasapplied for chromosomal analysis. Slides were stained with GiemsaBanding Staining (GTG) and 100 cells were totaly counted and karyotypingwere done with 15 metaphase. Chromosome with 46,XX karyotype. Casewere taken under consideration of congenital adrenel hyperplasia afterevalution of karyotype. Case were discussed according to by information ofpresents literatures.
Dicle Medical Journal. 01/2004;
