A ring chromosome 13 or r(13) exhibits breakage and reunion at breakage points on the long and short arms of chromosome 13, with deletions of the chromosomal segments distal to the breakage points. The r(13) chromosome accounts for approximately 20% of ring chromosomes compatible with life. We describe a female patient with mental retardation, growth retardation, microcephaly, craniofacial dysm...

introduction: infertility is a significant multifactorial disorder that can be caused by chromosomal abnormalities. in this study, we aimed to cytogenetically investigate male and female patients admitted to the genetic diagnostic laboratory of kayseri educational hospital in kayseri, turkey with varied clinical prediagnoses of infertility. materials and methods: chromosomes from cultured perip...

objective: the present retrospective study aims at identifying the prevalence of chromosomal abnormalities in a population of couples who are candidates for assisted reproductive techniques. materials and methods: cytogenetic analysis was performed according to the standard methods on cultured cells from the patients’ peripheral blood. the culture, was harvested after 72 hours. at least 20 meta...

Gastric cancer is the fourth most frequent type of cancer and the second cause of cancer mortality worldwide. The genetic alterations described so far for gastric carcinomas include amplifications and mutations of the c-ERBB2, KRAS, MET, TP53, and c-MYC genes. Chromosomal instability described for gastric cancer includes gains and losses of whole chromosomes or parts of them and these events mi...

BACKGROUND there have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE to verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS we evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The d...

BACKGROUND One of the frequent occurrences in chromosome rearrangements is pericentric inversion of the Chromosome 9; inv (9) (p11q12), which is consider to be the variant of normal karyotype. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility. The incidence is fo...

Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and ML...

The collared peccary (Tayassu tajacu) is widely distributed over the American continent, being found from the south of the USA to the north of Argentina. In Brazil, it is spread all over the country, being one of the potential species to be raised in captivity. Therefore, the cytogenetic techniques could be a potential tool for reproductive monitoring of animals raised in captivity, mainly when...

The GTG-banding and 5-BrdU incorporation patterns of the late-replicating X-chromosome were studied in female dogs and cattle, and compared to human female patterns. The replication patterns of the short arm of the X-chromosomes did not show any difference between human, dog and cattle females. As to the long arm, some bands showed differences among the three studied species regarding the repli...

At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...