The Karyotype of the Hoatzin ( < b > < i > Opisthocomus hoazin < /i > < /b > ) - A Phylogenetic Enigma of the Neornithes
The hoatzin (Opisthocomus hoazin M üller, 1776) is a folivorous bird, endemic to the Amazonian region. It presents some unique characteristics, including wing claws and foregut fermentation, which make its phylogenetic relationship to other birds difficult to determine. There have been various attempts to place it among the Gallifor mes, Gruiformes, Musophagiformes, Cuculiformes, and Charadriiformes, but phylogenetic analyses always show low supporting values. Nowadays, the hoatzin is included in the monotypic order Opisthocomiformes, but the relationship of this order to other groups of birds is still unclear. Although i...
Source: Cytogenetic and Genome Research - November 23, 2018 Category: Genetics & Stem Cells Source Type: research
A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss
We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,...
Source: Cytogenetic and Genome Research - November 22, 2018 Category: Genetics & Stem Cells Source Type: research
Localization of the < b > < i > SRY < /i > < /b > Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)
This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of theSRY gene was done, which ruled out...
Source: Cytogenetic and Genome Research - November 22, 2018 Category: Genetics & Stem Cells Source Type: research
A Novel and Cytogenetically Cryptic t(7;21)(q36.1;q22) Disrupting RUNX1 in Acute Myeloid Leukemia
We report here a novelRUNX1partner gene,KMT2C (MLL3), in a patient with de novo acute myeloid leukemia, having a novel and cytogenetically cryptic t(7;21)(q36.1;q22) leading to disruption ofRUNX1andKMT2C. This is the third crypticRUNX1 rearrangement in myeloid and the fourth in hematologic malignancies.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 16, 2018 Category: Genetics & Stem Cells Source Type: research
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review
Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in theEHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Here, to further expand the knowledge on genotype and phenotype of this condition, we report 2 novel cases: one patient carrying a 46-kb 9q34.3 deletion and showing macrocephaly never described in KS, and a second patien...
Source: Cytogenetic and Genome Research - November 16, 2018 Category: Genetics & Stem Cells Source Type: research
A Novel and Cytogenetically Cryptic t(7;21)(q36.1;q22) Disrupting < b > < i > RUNX1 < /i > < /b > in Acute Myeloid Leukemia
We report here a novelRUNX1partner gene,KMT2C (MLL3), in a patient with de novo acute myeloid leukemia, having a novel and cytogenetically cryptic t(7;21)(q36.1;q22) leading to disruption ofRUNX1andKMT2C. This is the third crypticRUNX1 rearrangement in myeloid and the fourth in hematologic malignancies.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 15, 2018 Category: Genetics & Stem Cells Source Type: research
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey
We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as “a novel genetic disorder.” Various genetic tests, including a BAC-based array-CGH analysis, were reported as normal. Recently, a SNP-based microarray analysis was performed and showed an 11.1-Mb deletion from 6q25.2 to 6q26, includingARID1Band ZDHHC14. Recent literature suggests that the 6q25 deletion syndrome is a recognizable entity characterized by growth d...
Source: Cytogenetic and Genome Research - November 15, 2018 Category: Genetics & Stem Cells Source Type: research
The Arboranan Frogs: Preface
Cytogenet Genome Res 2018;155:7 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
The Arboranan Frogs: Foreword
Cytogenet Genome Res 2018;155:6 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
The Arboranan Frogs: Species Index
Cytogenet Genome Res 2018;155:317-324 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
The Arboranan Frogs: Appendices
Cytogenet Genome Res 2018;155:249-316 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
The Arboranan Frogs: Materials and Methods
Cytogenet Genome Res 2018;155:47-53 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
Preliminaries
Cytogenet Genome Res 2018;155:1-5 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - November 8, 2018 Category: Genetics & Stem Cells Source Type: research
Chromatin Diminution in Cyclops kolensis Lill. (Copepoda, Crustacea) as a Radical Way to Inactivate Redundant Genome in Somatic Cells
Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepodCyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduced in size by more than 90% without affecting the genome of germline cells. Although the diploid chromosome number is unchanged, chromosome size is dramatically reduced by CD. The eliminated DNA consists primarily of repetitive sequences and localizes within granules during the elimination process. In this revie...
Source: Cytogenetic and Genome Research - October 30, 2018 Category: Genetics & Stem Cells Source Type: research
Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse Zygotes
Although an essential component of assisted reproductive technologies, ovarian stimulation, or superovulation, may interfere with the epigenetic reprogramming machinery during early embryogenesis and gametogenesis. To investigate the possible impact of superovulation particularly on the methylation reprogramming process directly after fertilization, we performed immunofluorescence staining of pronuclear (PN) stage embryos with antibodies against 5mC and 5hmC. PN stage embryos obtained by superovulation displayed an increased incidence of abnormal methylation and hydroxymethylation patterns in both maternal and paternal pro...
Source: Cytogenetic and Genome Research - October 29, 2018 Category: Genetics & Stem Cells Source Type: research
