Inherited ring chromosomes: an analysis of published cases

No abstract is available for this paper.

• Publication year

  1991

• Venue

  Human Genetics

• Publication date

  1991-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00200912PMID 1864607
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Ring chromosome 18 in mother and daughter.

  2008cited by this paper
• Segregation of a 22 ring chromosome in three generations

  2004cited by this paper
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  2004influential reference
• Maternal transmission of ring chromosome 21

  1990cited by this paper
• Ring chromosome 21 transmitted from mother to daughter: its stability in a lymphoblastoid cell line.

  1990cited by this paper
• Familial ring (20) chromosomal mosaicism

  1989cited by this paper
• Ring chromosome 11 and café-au-lait spots.

  1988influential reference
• Does “ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome

  1987cited by this paper
• Decreased cell viability of fibroblasts from two patients with a ring chromosome: an in vitro reflection of growth failure?

  1987cited by this paper
• Ring chromosome 21 in the mother and 21/21 translocation in the fetus: karyotype: 45,XX,-21,-21,+t(21;21)(p11;q11).

  1987cited by this paper
• Ring chromosome 15 in a mother and her children

  1987cited by this paper
• Familial transmission of a ring chromosome 21

  1987cited by this paper
• Tandem duplication chromosome 21 in the offspring of a ring chromosome 21 carrier.

  1987cited by this paper
• Ring chromosome 21 in healthy persons: different consequencies in females and in males

  1986cited by this paper
• Ring chromosome 21 in healthy persons: different consequences in females and in males.

  1986cited by this paper
• Ring chromosome 18 in a mother and son.

  1986cited by this paper
• Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.

  1984cited by this paper
• A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.

  1983cited by this paper
• Ring chromosome 21 in phenotypically apparently normal persons: report of two families from Switzerland and Italy.

  1983cited by this paper
• Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites

  1983cited by this paper
• Inheritance of a ring 14 chromosome.

  1981influential reference
• Segregation of an X ring chromosome in two generations.

  1980cited by this paper
• Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother

  1979cited by this paper
• Four new cases of ring 21 and 22 including familial transmission of ring 21.

  1977cited by this paper
• Reexamination of a family with a t(13q14q) and a ring D(13) child.

  1973cited by this paper
• [A familial case of 17 r ring-shaped chromosome of group E with transmission from father to son].

  1973cited by this paper
• Familiäres Mosaik mit G-ring

  1969cited by this paper
• [Familial mosaicism with G ring].

  1969cited by this paper

• Epilepsy associated with chromosomal disorders.

  2025cites this paper
• Clinical Characterization and Cytogenetic-Molecular Study of a Patient with a Ring Chromosome 12

  2025cites this paper
• Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms

  2024cites this paper
• Clinical validation of an abbreviated karyotype analysis protocol for fertility evaluation.

  2024cites this paper
• Bilateral Cleft Lip and Palate in Ring Chromosome 7 Syndrome: A Case Report and Review of Clinical Characteristics

  2023cites this paper
• Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

  2023cites this paper
• The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

  2022cites this paper
• A Case of Familial Ring Chromosome 21 Mosaicism

  2021influential citation
• Fetal Morph Functional Diagnosis

  2021cites this paper
• Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism.

  2021cites this paper
• Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

  2020cites this paper
• Genetic Counseling: Chromosomal Structural Rearrangements

  2020cites this paper
• Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

  2020cites this paper
• Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia*

  2019cites this paper
• A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.

  2019cites this paper
• Ring Chromosome 20

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• Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

  2018cites this paper
• Ring Chromosome and Clinical Findings: Reports Cases of 4 Different Chromosomes in Beninese Population

  2018cites this paper
• The normality of sperm in an infertile man with ring chromosome 15: a case report

  2018cites this paper
• Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

  2018cites this paper
• Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

  2018cites this paper
• Ring chromosomes: from formation to clinical potential

  2018cites this paper
• Constitutional chromosome abnormalities

  2017cites this paper
• Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

  2017cites this paper
• Analyse des variations du nombre de copies d'ADN dans une cohorte d'hommes infertiles et génération de modèles génétiques d’étude de la méiose à partir de cellules iPS de patients infertiles

  2017cites this paper
• Fecundity in an infertile man with r(15) - a challenge to the current paradigm.

  2017cites this paper
• Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

  2016cites this paper
• R(18) Syndrome

  2016cites this paper
• Genotypic and phenotypic variability in the ring chromosome 21 syndrome

  2016cites this paper
• Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

  2015cites this paper
• Autosomal ring chromosomes in human genetic disorders.

  2015influential citation
• Azoospermia and ring chromosome 9—a case report

  2015cites this paper
• Heterochromatin Position Effects on Circularized Sex Chromosomes Cause Filicidal Embryonic Lethality in Drosophila melanogaster

  2014cites this paper
• Mitotic misbehavior of a Drosophila melanogaster satellite in ring chromosomes: insights into intragenomic conflict among heterochromatic sequences

  2014cites this paper
• Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report

  2014cites this paper
• Telomere shortening and telomere position effect in mild ring 17 syndrome

  2014cites this paper
• Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

  2014cites this paper
• Unidentifiable marker chromosomes, derivative chromosomes, chromosomes with additional material and rings

  2014cites this paper
• 35 RING AUTOSOMES : SOME UNEXPECTED FINDINGS

  2013influential citation
• Minor dysmorphism in a child with inherited ring chromosome 18

  2013cites this paper
• Chromosomes are often regarded merely as static containers for genetic information

  2013cites this paper
• Ring Y chromosome, review and case report

  2013cites this paper
• Molecular and clinical characterization of patients with a ring chromosome 11.

  2012cites this paper
• Ring chromosome 20.

  2012cites this paper
• Ring Autosomes: Some Unexpected Findings

  2012influential citation
• Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

  2011cites this paper
• Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

  2011cites this paper
• Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

  2011cites this paper
• Azoospermia and paternal autosomal ring chromosomes: case report and literature review.

  2011cites this paper
• Familial ring (18) mosaicism in a 23‐year‐old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX

  2011cites this paper
• Azoospermia in a man with a constitutional ring 22 chromosome.

  2010cites this paper
• Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients

  2010cites this paper
• Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4.

  2010cites this paper
• Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico‐pathological studies

  2010influential citation
• Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

  2010cites this paper
• Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

  2009influential citation
• Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype.

  2009cites this paper
• Ring chromosome 21: A Case Report

  2009cites this paper
• Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male

  2009cites this paper
• Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

  2009cites this paper
• Ring chromosome 7 in an Indian woman

  2008cites this paper
• Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

  2008cites this paper
• Ring chromosome 15: characterization by array CGH

  2005cites this paper
• Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

  2005cites this paper
• Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation.

  2005cites this paper
• Supernumerary ring chromosome 20 in a mother and her child

  2005cites this paper
• Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An example for successive ring chromosome formation

  2005cites this paper
• Ring Chromosome 20 with Nonconvulsive Status Epilepticus: Electroclinical Correlation of a Rare Epileptic Syndrome

  2005cites this paper
• Structural Chromosome Rearrangements

  2005cites this paper
• Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child

  2005influential citation
• Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype

  2004influential citation
• Ring Chromosome 18: Clinical, Cytogenetic and Molecular Genetic Studies on Four Patients

  2004cites this paper
• Inherited ring chromosome 8 without loss of subtelomeric sequences.

  2004cites this paper
• Duplication 4p and deletion 4p (Wolf–Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation

  2004cites this paper
• Molecular characterization of an inherited ring (19) demonstrating ring opening

  2003cites this paper
• Prenatal diagnosis of a de novo ring chromosome 11.

  2001cites this paper
• First familial case of ring chromosome 18 and monosomy 18 mosaicism.

  2001cites this paper
• [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].

  2001cites this paper
• Mosaicism for a small marker chromosome resulting from a familial Robertsonian translocation (21;22)

  1999cites this paper
• Epstein-Barr–based episomal chromosomes shuttle 100 kb of self-replicating circular human DNA in mouse cells

  1998cites this paper
• The simplicity of complex MACs

  1997cites this paper
• Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

  1996cites this paper
• Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.

  1996cites this paper
• Familial ring (19) chromosome mosaicism: case report and review.

  1996cites this paper
• Mammalian artificial chromosomes: a new tool for gene therapy.

  1994cites this paper
• Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures

  1994cites this paper
• Extrachromosomal maintenance and amplification of yeast artificial chromosome DNA in mouse cells.

  1993cites this paper