Assessing the role of ketogenic dietary therapy in ring chromosome 20 syndrome: A patient‐led approach
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DOI: 10.1002/epi4.12387
Abstract: Ring chromosome 20 syndrome (r(20)) is an ultra‐rare disease characterized by drug‐refractory epilepsy, cognitive impairment, and behavioral problems. Nonpharmacological treatments alongside antiepileptic drugs early after diagnosis may help reduce seizure frequency and preserve cognition. Ketogenic… read more here.
Keywords: ketogenic dietary; dietary therapy; ring chromosome; kdt ... See more keywords
Combined Immunodeficiency with Ring Chromosome 21
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DOI: 10.1007/s10875-018-0493-z
Abstract: To the Editor, Ring chromosome 21 or mosaic monosomy 21 is a rare complex chromosomal deletion syndrome. Patients present with dysmorphism, neurological sequelae including microcephaly, hypertonia, and seizures, thrombocytopenia, and intellectual impairment. There is also… read more here.
Keywords: immunodeficiency; ring chromosome; immunodeficiency ring; ref ... See more keywords
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02909-7
Abstract: Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS… read more here.
Keywords: myelodysplastic syndromes; chat syndrome; ring chromosome; cri chat ... See more keywords
Ring chromosome 7 in a child with T-cell acute lymphoblastic leukemia with myeloid markers
Sign Up to like & getrecommendations! Published in 2021 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2020.1864700
Abstract: Abstract Ring chromosomes are uncommon in hematological diseases. Here we present the case of a 13-year-old girl with leukocytosis, anemia, and lymphadenopathy. Flow cytometry analysis revealed a predominant precursor T lymphoid population expressing CD7, CD5,… read more here.
Keywords: cell acute; ring chromosome; lymphoblastic leukemia; acute lymphoblastic ... See more keywords
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2098987
Abstract: ABSTRACT Background Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. Methods Examination, multimodal imaging, and genetic testing were used to guide diagnosis and… read more here.
Keywords: turner; ring chromosome; turner syndrome; mosaic turner ... See more keywords
Transcriptome analysis of a ring chromosome 20 patient cohort
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DOI: 10.1111/epi.16766
Abstract: Ring chromosomes occur when the ends of normally rod‐shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disability and epilepsy are usually present, even if there is no deleted coding material; the mechanism by… read more here.
Keywords: transcriptome analysis; ring chromosome; analysis; analysis ring ... See more keywords
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4.
Sign Up to like & getrecommendations! Published in 2018 at "The journal of hand surgery Asian-Pacific volume"
DOI: 10.1142/s2424835518720311
Abstract: The objective of this study was to clarify the difference in thumb deformity between our case with ring chromosome 4 and thumb polydactyly, in which ulnar side was small and had no active motion, and… read more here.
Keywords: ring chromosome; thumb polydactyly; thumb; case ... See more keywords
B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21
Sign Up to like & getrecommendations! Published in 2022 at "Cytogenetic and Genome Research"
DOI: 10.1159/000527025
Abstract: Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood… read more here.
Keywords: ring chromosome; constitutional ring; chromosome; iamp21 ... See more keywords
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-018-0367-3
Abstract: BackgroundConstitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and… read more here.
Keywords: cytogenomic clinical; ring chromosome; human ring; ring chromosomes ... See more keywords
Anesthetic Management of a Patient With Ring 18 Syndrome.
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DOI: 10.2344/anpr-68-03-01
Abstract: Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical… read more here.
Keywords: patient ring; ring chromosome; anesthetic management; ring syndrome ... See more keywords
Ring chromosome 14 syndrome: what the dentist should know to manage children with r(14) effec-tively.
Sign Up to like & getrecommendations! Published in 2023 at "Folia medica"
DOI: 10.3897/folmed.65.e71784
Abstract: INTRODUCTION Ring chromosome 14 syndrome, or r(14), is a rare genetic disorder characterized by distinctive facial features, intractable epilepsy, delayed development, intellectual disability, and autism spectrum disorder. With less than 100 documented cases worldwide, the… read more here.
Keywords: syndrome dentist; ring chromosome; manage children; chromosome syndrome ... See more keywords