Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.

Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient.

Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review.

Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia.

[Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes].

Objective: To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.

Methods: G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.

Measuring Photoexcited Free Charge Carriers in Mono- to Few-Layer Transition-Metal Dichalcogenides with Steady-State Microwave Conductivity.

Photoinduced generation of mobile charge carriers is the fundamental process underlying many applications, such as solar energy harvesting, solar fuel production, and efficient photodetectors. Monolayer transition-metal dichalcogenides (TMDCs) are an attractive model system for studying photoinduced carrier generation mechanisms in low-dimensional materials because they possess strong direct band gap absorption, large exciton binding energies, and are only a few atoms thick. While a number of studies have observed charge generation in neat TMDCs for photoexcitation at, above, or even below the optical band gap, the role of nonlinear processes (resulting from high photon fluences), defect states, excess charges, and layer interactions remains unclear.

Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review.

Small supernumerary marker chromosomes (sSMCs) are present in ∼3.3 million of presently living human beings. The majority of these sSMC carriers (i.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3.

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3.

Case Report: A 36-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[6]/46,XX[18].

Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes.

Research Question: Can preimplantation genetic testing for structural rearrangement (PGT-SR) with next-generation sequencing (NGS) be used to infertile patients carrying small supernumerary marker chromosomes (sSMCs)?

Design: In this study, two infertile patients carrying ring sSMCs were recruited. Different molecular cytogenetic techniques were performed to identify the features of the two sSMCs, followed by clinical PGT-SR cycles.

Results: The results of G-banding and FISH showed that patient 1's sSMC originated from the 8p23-p10 region, with a resulting karyotype of [ 47,XY, del(8)(p23p10), +r(8)(p23p10).

The Symptoms Self-Management Center (SSMC): Methods for developing and implementing technology-enhanced self-management interventions for pain and fatigue.

The National Institutes of Nursing Research provides funding via the P20 grant mechanism for research infrastructure and resources to develop nurse scientists with expertise in symptom self-management. The Medical University of South Carolina College of Nursing was awarded a P20 grant in 2016 to build the Symptoms Self-Management Center for technology-enhanced interventions to address pain and fatigue in individuals with chronic health conditions. Resources were derived from three key subcores: bioinformatics, mHealth and eHealth consultative services, and community engagement.

Surgical Management of Incomplete Abortion by Manual Vacuum Aspiration (MVA).

This cross sectional study was carried out on incomplete abortion cases in Obstetrics and Gynaecology (ObG) Department, Sir Salimullah Medical College and Mitford Hospital (SSMC & MH), Dhaka, Bangladesh. It was carried out from 1st January 2012 to 30th June 2012 to assess the effectiveness of MVA in terms of completeness, duration, cost and complication of the procedure and duration of hospital stay. Incomplete abortion cases attending the ObG indoor were considered as study population.

Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report.

Rationale: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility.

Patient Concerns: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy.

Small Supernumerary Ring Chromosome Derived from an Inverted Duplication of 13q11.2q14 in a Fetus with Coarctation of the Aorta.

Here, we report a molecular characterization of a small supernumerary marker chromosome (sSMC) derived from the most proximal region of 13q present in a fetus with coarctation of the aorta at ultrasound examination during prenatal diagnosis. Cultured umbilical cord blood cells showed a de novo extra ring-shaped sSMC in 76% of the cells using a standard banding technique. SNP array revealed a tetrasomy of about 28.

A small supernumerary marker chromosome resulting in mosaic partial tetrasomy 4q26-q31.21 in a foetus with multiple congenital malformations.

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and next generation sequencing (NGS) were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN, meanwhile NGS also revealed a partial tetrasomy of 27.

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.

Background: This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations.

Results: Thirty-three cases carrying sSMCs were identified by banding cytogenetics. Of these cases, twenty-nine were first characterized by CMA and only two by FISH.

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Background: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH).

The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report.

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; therefore, molecular cytogenetic techniques are applied to achieve this goal.

Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.

Objective: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a laboratory in Taiwan.

Materials And Methods: We retrospectively searched and reviewed the sSMC cases detected during prenatal diagnoses in the Youthgene medical laboratory, between 2004 and 2015 and used array CGH to successfully analyze 45 of 47,XN,+mar or 47,XN + mar/46,XN.

Results: A total of 68,087 cases of amniocentesis were analyzed, of which 59 were identified as sSMCs.

Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature.

Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques.

Comparative Study of Alginate and Omeprazole in Symptomatic Treatment of Non-erosive Gastroesophageal Reflux Disease.

Gastroesophageal reflux disease is widely reported most prevalent disease of the gastrointestinal tract. The burden of gastroesophageal reflux disease (GERD) is increasing in Asia and the majority of patients have non-erosive reflux disease. This prospective, open label, non random (consecutive), experimental study was performed due to compare the therapeutic efficacy of alginate and omeprazole in relieving symptoms of non erosive reflux disease (NERD) and was carried out in the Outpatient Department of Gastroenterology, Dhaka Medical College Hospital, Dhaka, Bangladesh from December 2013 to May 2014.

Experience Managing Adult Patients on Continuous Ambulatory Peritoneal Dialysis in Bangladesh.

Continuous ambulatory peritoneal dialysis (CAPD) is becoming increasingly known to the patients of Bangladesh, and patient numbers are increasing. Here, we report our experience and clinical outcomes in this field.Our analysis included all CAPD patients managed in a tertiary care hospital in Bangladesh between 2003 and 2015.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected.

Knowledge, Attitude, and Perception About Renal Transplantation of CKD Patients, Caregivers, and General Population.

Introduction: In this study knowledge about kidney disease and the option of transplantation was assessed in chronic kidney disease (CKD) patients and their care givers.

Patients And Methods: A knowledge, attitude, and perception (KAP) questionnaire comprising 33 items was developed. It had 4 classes: knowledge of kidney disease (9 items), transplantation (10 items), attitude (6 items), and perception (8 items).

B Chromosomes in the Genus.

Our current knowledge of B chromosome biology has been augmented by an increase in the number and diversity of species observed to carry B chromosomes as well as the use of next-generation sequencing for B chromosome genomic analysis. Within the genus , B chromosomes have been observed in a handful of species, but recently they were discovered in a single laboratory stock of . In this paper, we review the B chromosomes that have been identified within the genus and pay special attention to those recently found in .

Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.

We present a case with discordant results in three prenatal screening methods, with additional genetic analyses. Non-invasive prenatal testing (NIPT) was performed on a 41-year-old Japanese woman at 10 weeks of gestation, and the result was positive for trisomy 18 with high accuracy. Amniocentesis was performed at 16 weeks of gestation.