Chromosomal Microarray Analysis on Intergenerational Effects of Oligomeric Proanthocyanidins Against Bisphenol-A Induced Brain Deformities

Oligomeric Proanthocyanidins (OPC) is a type of polyphenolic compound which have been demonstrated to have anti-cancer, anti-oxidant, anti-inflammatory and anti-mutagenic properties that may have the potential to reduce intergenerational effect of BPA towards DNA. This study was conducted to determine the effect of OPC on the DNA damage of BPA-induced rats using microarray CGH Chromosome Karyotyping. Adult Male Sprague Dawley rats were divided into six groups which are Normal, BPA, OPC10, OPC20, BPA+OPC10 and BPA+OPC20. The administration of BPA and/or OPC were conducted for 21 days using oral gavage before being mated with female rats of the same age at 1:1 mating ratio. Once the female rats were confirmed pregnant, the male rats were decapitated and their blood were collected for chromosome microarray analysis. The male offspring (F1 generation) were allowed to grow until 10 weeks old and their blood were also collected for chromosome microarray analysis. BPA group had a deletion of Vomeronasal receptor genes in which the deletion magnitude increased from P to F1 generation may affect the ability of the rats to detect chemosensory cues during neurobehavioral test. The amplification of Major Histocompatibility complex (MHC) class I gene in BPA+OPC20 group may aid in a better performance during hippocampal-dependent memory tests. These results suggested that OPC could be a potential agent in reducing the intergenerational effect of BPA. Current finding may enrich our understanding particularly in the possible mechanism of OPC on BPA-induced memory impairment Keywords: Bisphenol-A, Brain, microarray CGH Chromosome Karyotyping, Oligomeric Proanthocyanidins, Intergenerational

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome

We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76 Mb tetrasomy of proximal 22Q11.1 ⟶ 22Q11.21 consistent with CES {arr22q11.1q11.21 (16,888,899–18,644,241) X4}, a typical small type I CES chromosome. The patient has many of the basic characteristics of CES; however, he is taller than his peers instead of shorter. It is rarely reported in the past since short stature is a common feature of this syndrome. Furthermore, the boy has no intellectual disorder and attends a normal school since he was six-year-old. What bothered him most were recurrent respiratory infections, retromicrognathia, and heart defects.

The use of chromosomal microarray analysis for diagnostics of chromosomal pathology in fetal central nervous system malformations

Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 % among all malformations, whereas percentage in the structure of perinatal and infant mortality reaches 25–26 %.Aim: to estimate frequency of pathogenic copy number variations (CNVs) in fetuses with congenital malformations of CNS and normal karyotyping cytogenetic analysis.Materials and Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics in 2013–2019 due to ultrasound detection of congenital CNS defect in fetus. Fetal samples were studied by using chromosome microarray analysis (CMA).Results. Various pathogenic CNVs were detected in 7 (16.6 %) fetuses with prenatally diagnosed congenital CNS malformations. Non-syndrome pathogenic CNVs were detected in 85.7 %.Conclusion. Thus, performing chromosome microarray analysis as the first-line assay allows to diagnose not only aneuploidy, but also microdeletion/microduplication, the size of which below resolution threshold for standard cytogenetic karyotyping

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and characterization of submicroscopic deletions/duplications (copy number variants, CNVs) associated with ASD was made possible. However, the widely acknowledged excess of males on the autism spectrum reflects on a paucity of CMA studies specifically focused on females with ASD (f-ASD). In this framework, we aim to evaluate the frequency of causative CNVs in a single-center cohort of idiopathic f-ASD. Among the 90 f-ASD analyzed, we found 20 patients with one or two potentially pathogenic CNVs, including those previously associated with ASD (located at 16p13.2 16p11.2, 15q11.2, and 22q11.21 regions). An exploratory genotype/phenotype analysis revealed that the f-ASD with causative CNVs had statistically significantly lower restrictive and repetitive behaviors than those without CNVs or with non-causative CNVs. Future work should focus on further understanding of f-ASD genetic underpinnings, taking advantage of next-generation sequencing technologies, with the ultimate goal of contributing to precision medicine in ASD.

Chromosomal microarray analysis of ovum material in tubal pregnancy

Objective. To determine the significance of chromosomal aberrations in ectopic pregnancy. An ectopic pregnancy is a complication that occurs in approximately 12 % of all pregnancies and can cause morbidity and mortality in women of childbearing age. Identification of potential risk factors for the diagnosis of ectopic pregnancy remains an urgent, incompletely studied question. Materials and methods. A descriptive exploratory study was conducted on the basis of the City Clinical Hospital named after M.A. Tverie, Perm. The objects of the study were 20 women with tubal pregnancy. All patients were admitted to the gynecological unit of the clinic with a diagnosis of progressing tubal pregnancy, for which tubotomy with laparoscopic access was performed that allowed to preserve the integrity of the material. Besides traditional histological study, in all cases a chromosome microarray analysis of the fetal egg was performed. Results. In addition to routine histological study, in all cases of the analyzed group, a chromosome microarray analysis of the ovum material was carried out. It turned out that in one case, in a 28-year-old patient with a five-week tubal frozen pregnancy a complex chromosome imbalance was found: three copies of 16, 822 and X chromosomes and four copies of chromosome 7, molecular karyotype (according to ISCN 2016): arr (16. 822, X) x3, (7) x4. Conclusions. Despite the fact that genetic breakdowns are uncontrollable factors and it is not possible to directly influence them, the search for possible mechanisms leading to them is promising.