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A case with Down syndrome presenting 21q22q translocation: Differential diagnosis [21q22q translokasyonu saptanan bir Down sendromu olgusu]
Robertsonian translocations (ROBs) are the most common chromosomal rearrangemets. ROBs are whole-arm rearrangements between the acrocentric chromosomes chromosomes 13, 14, 15, 21, and 22. ROBs can be classified into 2 ... -
Chromosomal abnormalities in cases with congenital malformations
In this study we have investigated the chromosomal constitution of patients with congenital malformations in order to determine chromosomal anomaly frequencies. The conventional GTG banding patterns were routinely employed ... -
Chromosomal abnormalities in couples with recurrent pregnancyloss
Recurrent miscarriages affect approximately 5% of couples trying to establish a family. In this study we have investigated the chromosomal constitution of couples of with recurrent pregnancy losses in order to determine ... -
Cytogenetic analysis results of abortus materials
Approximately 15-20% of all clinically recognized pregnancies are spontaneously aborted at different weeks. Rates of abnormal karyotypes were 50-60% in abortus material. In this retrospective study, we have investigated ... -
Genetics of osteoporosis
Osteoporosis is a multifactorial disease characterized by a decrease bone mineral density (BMD) and micro-architectural deterioration of bone structure. Although there are several environmental influences on BMD, a genetic ... -
Polymorphism in the H-ras proto-oncogene in cases of urinary bladder cancer
Tural Ş.; Güneş S.; Büyükalpelli R.; Bağci H. (2006)Introduction: Ras proteins play role in signal transduction, cell division and differentiation. Ras protein is encoded by a gene located at 11p15.5 in human. The purpose of this study was to investigate the possible ... -
Premature ovarian failure and 46,X,del(X)(q21)
Premature ovarian failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Genetic, autoimmune and the ... -
Recurrent miscarriages and balanced translocation t(4;9)(q21;q13)
The structural chromosomal rearrangements are common in general population. Even balanced translocation carriers could have risk for having children with unbalanced chromosomes, they are phenotypically normal. Therefore, ... -
Results of amniocentesis cytogenetic analysis between 2000 and 2005 years at Samsun and around
Kara N.; Ökten G.; Güneş S.Ö.; Koçak I.; Yiğit S.; Tural Ş.; Pinarli F.A. (2005)In this study, we aimed to present of the results cytogenetic analysis and amniocentesis indications between the years 2000 and 2005 at Samsun and around. In this study 530 pregnancies were investigated. Each patient had ...
