Disease: Chromosome 20- trisomy
- <em>De Novo</em> Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review
- A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion
- A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review
- A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION
- A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability
- A rare case of a mosaic unbalanced translocation after chorionic villous sampling
- A Unique Genomic Variant of HDR Syndrome in Newborn
- Alagille-like syndrome with surprising karyotype: a case report
- Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms
- Autosomal trisomy 20 (61,XX,+20) in a malformed bovine fetus
- Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q
- Case of non-mosaic trisomy 20 in amniotic fluid cultures without anomalies in the fetus: cytogenetic discrepancy between amniocytes and fetal blood
- Case of prenatally diagnosed non-mosaic trisomy 20 with minor abnormalities
- Characterization of aneuploid populations with trisomy 7 and 20 derived from diploid human colonic epithelial cells
- Childhood nodal marginal zone lymphoma with unusual clinicopathologic and cytogenetic features for the pediatric variant: a case report
- Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
- Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations
- Clinical impact of the clone size in MDS cases with monosomy 7 or 7q deletion, trisomy 8, 20q deletion and loss of Y chromosome
- Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20
- Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results
- Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications
- Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant
- Constitutional trisomy 20 in an aborted Holstein fetus with pulmonary hypoplasia and anasarca syndrome
- Cryptic mosaicism for monosomy 20 identified in renal tract cells
- Current treatment options: impact of cytogenetics on the course of myelodysplasia
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic double trisomy involving trisomy 7 and trisomy 20 (48,XY,+7,+20) at amniocentesis
- Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome
- Cytogenetic findings in untreated patients with essential thrombocythemia
- Cytogenetics of agnogenic myeloid metaplasia: a study of 61 patients
- Cytogenetics of melanoma and nonmelanoma skin cancer
- Cytogenetics of melanoma and nonmelanoma skin cancer
- De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature
- De novo trisomy 20p of paternal origin
- Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
- Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene
- Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells
- Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20
- Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy
- Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
- Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications
- Evidence for a 3p25 breakpoint hot spot region in thyroid tumors of follicular origin
- Expanding the phenotype of mosaic trisomy 20
- Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy
- Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature
- FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)
- High polymorphism in the trisomic portion of a gastric cancer cell line
- High-resolution array-comparative genomic hybridization profiling reveals 20q13.33 alterations associated with ovarian endometriosis
- Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?
- Hyperdiploidy defines a distinct cytogenetic entity of meningiomas
- Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
- Identification of a novel recurrent gain on 20q13 in chronic lymphocytic leukemia by array CGH and gene expression profiling
- Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome
- Jumping-like translocation-a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia
- Keratinocyte cytogenetics in 10 patients with pigmentary mosaicism: identification of one case of trisomy 20 mosaicism confined to keratinocytes
- Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association
- Late-appearing Philadelphia chromosome in childhood acute myeloid leukemia
- Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a favorable outcome
- Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploi
- Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
- Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization
- Molecular cytogenetic analysis of chromosome aberrations in desmoid tumors
- Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion
- Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model
- Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15
- Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
- Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer
- Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures
- Mosaic trisomy 20 and mitigation in capital crimes sentencing: A review and case report
- Mosaic trisomy 20: considerations for genetic counseling
- Mosaic trisomy 20: discrepancy between cyto-and molecular genetic technologies in prenatal diagnosis
- Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation
- Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues
- Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing
- Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome
- Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q
- Partial monosomy 1q43 and partial trisomy 20q13.2: a case report
- Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis
- Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling
- Partial trisomy 20q in a fetus with hypoplastic nasal bone, mild ventriculomegaly, and short femur
- Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome
- Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome
- Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern
- Presence of Twist1-positive neoplastic cells in the stroma of chromosome-unstable colorectal tumors
- Progress in the research of pathology and genetics of desmoid tumor
- Relapse and cytogenetic evolution in myeloid neoplasms
- Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20
- Short sternum: feature of trisomy chromosome 7 and a new association?
- Single nucleotide polymorphism array-based karyotyping shows sequential genomic changes from monosomy to copy-neutral loss of heterozygosity of chromosome 7 and 20q deletion within a balanced translocation t(14;20) in AML
- The Multifaceted Syndromic Primary Immunodeficiencies in Children
- The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening
- The role of cytogenetic abnormalities as a prognostic marker in primary myelofibrosis: applicability at the time of diagnosis and later during disease course
- Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
- Transposition of great arteries in an infant born after prenatal diagnosis of trisomy 20 mosaicism
- Trisomy 20 mosaicism and nonmosaic trisomy 20: a report of 2 cases
- Trisomy 20p due to a paternal reciprocal translocation
- Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
- Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review
- Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature
- upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts
- World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes