A Cytogenetic Study of Turkish Children with Global Developmental Delay.

Global developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID.

Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.

Cytogenetic analysis is helpful in diagnostic workup of patients having prenatal or early postnatal medical problems and provides a basis for genetic counseling or deciding on clinical treatment options. Chromosomal abnormalities (CAs) constitute one of the most important category of genetic defects which have the potential to cause irreversible disorders. In this study, chromosome analysis results of 11,420 patients having congenital malformations or suspected of having chromosomal abnormalities, who were referred to Çukurova University Research and Training Hospital Cytogenetic Laboratory over a 16-year period, were investigated, retrospectively.

Robertsonian translocation (13;14) and its clinical manifestations: a literature review.

Robertsonian translocations between chromosomes 13 and 14 (rob[13;14]) are associated with some clinical manifestations, including male infertility and recurrent pregnancy loss (RPL). In this review, the clinical features associated with rob(13;14) translocation are discussed and the incidence rate of rob(13;14) translocation in cytogenetic surveys conducted on infertile males and couples who have experienced RPL compared with the incidence rate in newborns. To this purpose, a total of 30 cases of rob(13;14) translocation showing phenotypic manifestations were re-screened and the equal number of studies (n = 15) that reported chromosome analysis results in infertile men and couples who have experienced RPL were reviewed.

Effects of high-molecular-weight polyvinyl chloride on Xenopus laevis adults and embryos: the mRNA expression profiles of Myf5, Esr1, Bmp4, Pax6, and Hsp70 genes during early embryonic development.

Microplastics and associated adverse effects have been on the global agenda in recent years. Because of its importance as a model organism for studies on developmental biology, Xenopus laevis has been chosen as the study animal in in vitro teratogenesis studies. FETAX test uses early-stage embryos of X.

L-Glutamic acid monosodium salt reduces the harmful effect of lithium on the development of Xenopus laevis embryos.

Many xenobiotics in the environment affect the human body in various ways. Among those xenobiotics, lithium chloride (Li, LiCl) and monosodium glutamate (L-glutamic acid monosodium salt, MSG) compounds affect the crucial processes of stem cell differentiation, cell proliferation, developmental gene expression, and overall development in animals. In this study, we aimed to examine the developmental effects of exposure to flavor enhancer MSG and LiCI medicament on Xenopus embryos using the frog embryo teratogenesis assay of Xenopus test.

Chromosomal findings and sequence analysis of target exons of calcium-sensingreceptor (CaSR) gene in patients with Sagliker syndrome.

Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body.

Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions.

In this retrospective study, karyotype results of 1510 couples with a history of recurrent spontaneous abortion were evaluated. The study was conducted at Balcalı Hospital in Adana region of Turkey. For all cases, peripheral blood lymphocytes were cultured for chromosome study using the standard method.

Microchimeric Cells, Sex Chromosome Aneuploidies and Cancer.

The phenomenon of feta-maternal microchimerisms inspires numerous questions. Many questions remain to be answered regarding this new avenue of genetics. The X and Y chromosomes have been associated with malignancy in different types of human tumors.

Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea.

Study Objective: To estimate the frequency and the type of chromosomal abnormalities (CA) in patients with primary (PA) and secondary amenorrhea (SA).

Design: This retrospective study was comprised of patients had been referred to our laboratory between 1990 to 2008 and designed as original article.

Setting: Medical Faculty of Cukurova University in Turkey.

Genetic alterations of chromosomes, p53 and p16 genes in low- and high-grade bladder cancer.

A majority of patients with bladder cancer present with superficial disease and subsequently, some patients show progression to muscle invasive or metastatic disease. Bladder cancer has a complex genetic process and identification of the genetic alterations which occur during progression may lead to the understanding of the nature of the disease and provide the possibility of early treatment. The aim of the present study was to compare the structural and numerical chromosomal differences and changes in the p16 and p53 genes between low-grade (LG) and high-grade (HG) bladder cancer (BC) using cytogenetic and molecular cytogenetic methods.

Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma.

Objectives: Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma.

Chromosome imbalances and alterations in the p53 gene in uterine myomas from the same family members: familial leiomyomatosis in Turkey.

Uterine leiomyomas (UL) are extremely common neoplasms in women of reproductive age, and are associated with a variety of characteristic choromosomal aberrations (CAs). The p53 gene has been reported to play a crucial role in suppressing the growth of a variety of cancer cells. Therefore, the present study investigated the effects of CAs and the p53 gene on ULs.

Are there fetal stem cells in the maternal brain?

Fetal cells can enter maternal blood during pregnancy but whether they can also cross the blood-brain barrier to enter the maternal brain remains poorly understood. Previous results suggest that fetal cells are summoned to repair damage to the mother's brain. If this is confirmed, it would open up new and safer avenues of treatment for brain damage caused by strokes and neural diseases.

Identification of chromosome abnormalities in screening of a family with manic depression and psoriasis: predisposition to aneuploidy.

Cytogenetic analysis is an important stage in understanding the genetic background of manic depression (MD), and may provide a valuable clue to the identification of target loci and successful search for major genes. In order to identify chromosomal regions we aimed to detect the relationships between chromosomal aberrations (CAs) and immunological markers in a family with MD and psoriasis. We used the cell cultivation and conventional G-banding.

Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.

Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear.

International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.

Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13.

The genotoxic effect of nicotine on chromosomes of human fetal cells: the first report described as an important study.

Context: Recent studies have suggested a direct contribution of nicotine--the addictive component of tobacco and tobacco smoke--to human carcinogenesis, and it remains the most common harmful substance to which pregnant women are exposed. Also, it has deleterious effects on the fetus. The sperm of smoking fathers and newborns of smoking mothers have elevated frequencies of chromosome translocations and DNA strand breaks.

The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish women.

Aim: The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women.

Method: Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy.

Phenotypic correlations in a patient with ring chromosome 22.

Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family.It is a case report of a patient presented at Medical Faculty of Çukurova University in Turkey.

Inheritance of pericentric inversion in chromosome 7 through the three progenies and a newborn with congenital hydronephrosis diagnosed prenatally by fetal urine sampling.

Objective: To report the inheritance of a pericentric inversion in chromosome 7 through the three progenies, congenital hydronephrosis, and recurrent miscarriages in an extended family.

Design: Case report.

Setting: Medical Faculty of Cukurova University in Turkey.