Disease: Chromosome 21 ring
- "Compensatory" uniparental disomy of chromosome 21 in two cases
- "Zwilling" versus "Tai Chi" configuration of double-sized ring chromosome
- 21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes
- A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability
- A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth
- A rare case of acute megakaryoblastic leukaemia with constitutional ring chromosome 21
- A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases
- A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
- A somatic origin of homologous Robertsonian translocations and isochromosomes
- Agminated lentiginosis in a patient with ring chromosome 21
- Alopecia, deformed ear and mental retardation associated with terminal 21q deletion
- Amplification of AML1 gene in association with karyotype, age and diagnosis in acute leukemia patients
- Amplification of the AML1(CBFA2) gene on ring chromosomes in a patient with acute myeloid leukemia and a constitutional ring chromosome 21
- An adult female patient with ring chromosome 21: behavioural phenotype and results of high-resolution molecular characterisation
- Analysis of a infertile female with ring 21 chromosome using combined techniques
- Analysis of fetal DNA in the maternal venous blood for abnormalities of chromosomes 13, 16, 18 and 21 in first-trimester spontaneous miscarriage
- Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis
- Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy
- Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21
- B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21
- B-cell acute lymphoblastic leukemia with iAMP21 in a patient with Down syndrome due to a constitutional isodicentric chromosome 21
- Centromeric association of a microchromosome Y in two male patients
- Characterization of a ring chromosome 21 by FISH-technique
- Chromosomal changes detected by fluorescence in situ hybridization in patients with acute lymphoblastic leukemia
- Chromosome 21 ring (r21) and epilepsy
- Chromosome abnormalities in bone marrow of Fanconi anemia patients
- Clinical features and genetic analysis of two fetuses with ring chromosome 21 mosaicism
- Clinical investigation of infertile males with chromosomal anomalies
- Combined Immunodeficiency with Ring Chromosome 21
- Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome
- Concurrence of ring 21 and trisomy 21 in children of normal parents
- Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia
- Cytogenetic analysis and phenotype location analysis on the karyotype of a ring chromosome 21 syndrome
- Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia
- Cytogenetics of twelve cases of uveal melanoma and patterns of nonrandom anomalies and isochromosome formation
- Dilated ascending aorta in a child with ring chromosome 21 syndrome
- Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
- Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21
- Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II
- Dystonia in a patient with ring chromosome 21
- Establishment and characterization of a novel CD34-positive human myeloid leukemia cell line: MHH225 growing in serum-free culture
- Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report
- Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals
- Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)
- Hypogammaglobulinaemia in a patient with ring chromosome 21
- Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report
- ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency
- Karyotypic abnormalities in adenocarcinomas of the lung
- Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism
- Marker chromosome 21 identified by microdissection and FISH
- Maternal transmission of ring chromosome 21
- Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21
- Meiotic behavior of the sex chromosomes in a 45,X/46,X,r(Y)/46,X,dic r(Y) patient whose semen was assessed by fluorescence in situ hybridization
- Mining knowledge for the methylation status of CpG islands using alternating decision trees
- Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR
- Molecular mechanism in the formation of a human ring chromosome 21
- Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature
- Morphological features of TMPRSS2-ERG gene fusion prostate cancer
- Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3
- Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report
- Non-imprinted allele-specific DNA methylation on human autosomes
- Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
- Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature
- Pharmacological Inhibition of p-21 Activated Kinase (PAK) Restores Impaired Neurite Outgrowth and Remodeling in a Cellular Model of Down Syndrome
- Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion
- Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening
- Prenatal diagnosis of familial ring 21 chromosome
- Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation
- Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF
- Recurrent isochromosome 21 and multiple abnormalities in a patient suspected of having acute myeloid leukemia with eosinophilic differentiation -- a rare case from South India
- Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences
- Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes
- Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR
- Ring 21 chromosome presenting with epilepsy and intellectual disability: clinical report and review of the literature
- Ring chromosome 21
- Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia
- Ring chromosome 21 and reproductive pattern: a familial case and review of the literature
- Ring chromosome 21 as a cause of developmental disorder. A case report from the practice of child psychiatry
- Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation
- Ring chromosome 21 in the differential diagnosis of waddling gait
- Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review
- Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line
- Ring chromosome 22 46,XX,r(22)(p11.2----q13.3) presenting with leukemoid reaction
- Ring chromosome 8 and translocation t(8;21) in a patient with acute myeloblastic leukemia
- RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes
- Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21
- Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype
- Stable ring chromosome 21: molecular and clinical definition of the lesion
- Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
- Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization
- The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt
- Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of <em>RUNX1</em>: Cytogenetic and Molecular Characterization
- Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): study protocol for a randomized controlled trial
- Towards onset prevention of cognition decline in adults with Down syndrome (The TOP-COG study): A pilot randomised controlled trial
- Transmission of ring 14 chromosome from mother to two sons
- Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21
- Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages
- Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases
- Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling
- WITHDRAWN: Corrigendum to "Ring chromosome 21 presenting with sacrococcygeal teratoma: Prenatal diagnosis, molecular cytogenetic characterization and literature review" [Gene 522 (2013) 111-116]