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Molecular Cytogenetics
Scopus
ISSN 1755-8166 · BMC · 609 artikel di indeks
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Artikel Jurnal
A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control
Abstract Background Optical genome mapping (OGM) has demonstrated significant potential in detecting structural variations (SVs) and has been comprehensively evaluated both retrospectively and prospectively in prenatal diagnosis. However, obtaining an adequate volume of amniotic fluid (AF) samples…
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Artikel Jurnal
Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion
Abstract Background Intrachromosomal insertion is a rare form of structural chromosomal rearrangement that often cannot be accurately delineated by conventional G-banding, making it difficult to predict reproductive outcomes. In clinical practice, such insertions are often misinterpreted as…
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Artikel Jurnal
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies
Abstract Background Expanded non-invasive prenatal testing (E-NIPT) extends traditional screening for trisomies 21, 18, and 13 to sex-chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and 92 pathogenic subchromosomal copy-number-variations (CNV) regions. However, the clinical…
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Artikel Jurnal
Molecular cytogenetics provides insights into heterochromatin composition and karyotypic evolution in species of the Plebeia group (Apidae: Meliponini)
Abstract Background The Plebeia group, including Plebeia, Lestrimelitta, and Friesella, requires clearer taxonomic resolution. Plebeia is the polyphyletic: species in clade II are more closely related to Friesella and Lestrimelitta than to their congeners in clade I, which are more restricted to…
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Artikel Jurnal
Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome
Abstract Trisomy 14 mosaicism is a rare chromosomal disorder caused by the presence of an extra chromosome 14 in a subset of cells. Its true prevalence is unclear due to frequent early pregnancy loss. Clinical manifestations vary widely and include fetal growth restriction, craniofacial dysmorphia…
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Artikel Jurnal
Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report
Abstract Background DAAM2 is an important formin, which plays an important role in the polymerization of monomeric actin into linear filaments. Previous studies have suggested that the DAAM2 variant mainly causes congenital Nephrotic Syndrome Type 24 (NPHS24), which is characterized by focal…
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Artikel Jurnal
Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations
Abstract Introduction To report the prenatal diagnosis and follow-up of a fetus with mosaic tetrasomy 9p without obvious abnormal clinical manifestations. Case report A fetus diagnosed with mosaic T9p at Shaoxing Maternal and Child Health Hospital in February 2022 was selected as the study subject…
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Artikel Jurnal
A ten-year follow up case report on monochorionic dizygotic twins with confined blood chimerism of 47,XY,+21/46,XX
Abstract Background Only ten patients with both trisomy 21 and normal karyotypes have been documented, including four singleton patients and three sets of twins. Among these twins, two were monochorionic dizygotic: one pair was terminated at 18 weeks, and the other was followed for two years. Case…
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Artikel Jurnal
Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies
Abstract Dandy-Walker malformation (DWM) is a condition characterized by a cyst in the posterior cranial fossa contiguous with the fourth ventricle, combined with complete or partial agenesis of the cerebellar vermis; and elevation of the cerebellar tentorium, torcular Herophili, and transverse…
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Artikel Jurnal
A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR
Abstract Objective To report a rare prenatal case of paternal uniparental isodisomy of chromosome 3 (upd(3)pat) associated with isolated intrauterine growth restriction (IUGR). Methods Expanded non‑invasive prenatal screening (NIPS) in a 19‑year‑old woman indicated a duplication on chromosome 3q…
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Artikel Jurnal
Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2–p22.3: a case report and literature review
Abstract Duplication of 6p is a rare genetic syndrome of which about 25% have one or more congenital cardiac defects including cardiac septal defects, pulmonary artery hypoplasia and patent ductus arteriosus. We present the first case of a fetus with functional single ventricle and persistent…
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Artikel Jurnal
Previously unreported translocation (14;15)(q32; q11.2) observed in B-cell acute lymphoblastic leukemia: a case report
Abstract t(14;15) have rarely been seen in hematologic malignancies. Here we have reported a case of a 4-year-old male who presented with low grade fever and body aches and, was diagnosed on immunophenotyping as B-cell Acute Lymphoblastic Leukemia. Cytogenetic analysis demonstrated a previously…
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Artikel Jurnal
Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study
Abstract Background This study aimed to analyze chromosomal characteristics and copy number variations (CNVs) in fetuses with ventriculomegaly (VM), thereby comparing genetic features between the isolated VM group and the non-isolated VM. Simultaneously evaluate the efficacy of karyotyping and CNV…
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Artikel Jurnal
Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development
Abstract Objective To define the genomic architecture of Y‑chromosome ectopy in a child with 46,XX testicular disorders of sex development (DSD) and illustrate the complementary roles of low‑coverage CNV sequencing (CNV‑seq) and optical genome mapping (OGM). Methods A one‑and‑a‑half‑year‑old child…
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Artikel Jurnal
Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis
Abstract Background Adult T-lymphoblastic leukemia often harbors cryptic structural variants that remain undetected by standard cytogenetic and targeted molecular testing, limiting precise risk stratification and therapeutic planning. This case is notable for the use of optical genome mapping (OGM)…
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Artikel Jurnal
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family
Abstract Background Copy number variants (CNVs) represent a significant source of genomic diversity, encompassing both benign and pathogenic variations. The accurate interpretation of CNVs identified during prenatal diagnosis is crucial for appropriate genetic counseling and management. The…
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Artikel Jurnal
Cytogenetic patterns of hematologic malignancies before, during and after the COVID-19 pandemic: a single-center retrospective study in Thailand
Abstract Background Hematologic malignancies frequently harbor recurrent cytogenetic abnormalities that are essential for diagnosis and prognostic stratification. The COVID-19 pandemic raised concerns that infection-related biological effects or disruptions in healthcare deliverymight influence the…
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Artikel Jurnal
Acquired pericentric inversion of der(9) with BCR and ABL1 codeletion in chronic myeloid leukemia: a rare cytogenetic finding from Mali
Abstract Background Chronic myeloid leukemia (CML) is defined by the presence of the BCR::ABL1 fusion gene resulting from the t(9;22)(q34;q11.2) translocation. In addition to this primary rearrangement, secondary chromosomal abnormalities involving chromosomes 9 and 22 may arise during clonal…
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Artikel Jurnal
Genome-wide copy-number analysis improves detection of pathogenic AZFc and autosomal variants in idiopathic non-obstructive azoospermia
Abstract Background Genetic defects account for a substantial proportion of severe male infertility, yet standard diagnostic methods such as karyotyping and multiplex PCR for Y-chromosomal microdeletions fail to detect all clinically relevant abnormalities. Methods We investigated 51 rigorously…
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Artikel Jurnal
Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa
Abstract Background The 45,X karyotype (X monosomy) is prevalent in females with Turner syndrome. However, in rare cases, it can also manifest in males. It typically results from an unbalanced translocation between the Y chromosome and an autosome, leading to the presence of the short arm of the Y…