Literature DB >> 7228035

Ring (15) chromosome.

E Yunis, M Leibovici, L Quintero.   

Abstract

Cytogenetic studies on lymphocytes from a girl aged 3 years and 10 months revealed revealed a ring chromosome 15. Several banding methods showed the r(15) chromosome not to have any apparent deletion of the long arm. The silver staining technique for nucleolar organizer regions showed an NOR positive region (band p12). In only a few cells was a chromosome 15 missing. The size of the r(15) was found to be constant. Comparison with 11 previous reported cases in the literature shows that the clinical manifestations in the different patients with ring chromosome 15 are constant although not clinically identifiable and it appears likely to attribute them to a significantly retarded intrauterine and postnatal growth instead of presumed deficiency in the long arm and mosaic configurations.

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Year:  1981        PMID: 7228035     DOI: 10.1007/bf00282025

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  12 in total

1.  Chromosome studies in ovarian hypoplasia.

Authors:  J László; M Gaál; P Bösze
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

2.  Ring chromosome 15 in child with a minor dysmorphism of phenotype.

Authors:  L Rumenić; M Anaf
Journal:  Hum Genet       Date:  1976-07-27       Impact factor: 4.132

3.  [The Dr syndrome. Study of a further case (46, XX, 14r)].

Authors:  S Gilgenkrantz; C Cabrol; C Lausecker; M E Hartleyb; B Bohe
Journal:  Ann Genet       Date:  1971-03

4.  [Observation of the 13-15 chromosome group in a ring (46,XY,15r)].

Authors:  J M Emberger; D Rossi; R Jean; H Bonnet; R Dumas
Journal:  Humangenetik       Date:  1971

5.  46,XX/46,XX,r(15) mosaiciam: report of a case.

Authors:  R A Pfeiffer; R Dhadial; W Lenz
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

6.  Ring chromosome 15:r(15). Identification by R banding.

Authors:  C Stoll; J G Juif; J C Luckel; C Lausecker
Journal:  Humangenetik       Date:  1975

7.  Ring chromosome 15 syndrome.

Authors:  J P Fryns; J Timmermans; F D Hondt; B François; L Emmery; H van den Berghe
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132

8.  [The r(15) syndrome (ring chromosome 15). Description of a case].

Authors:  E Ferrante; B Boscherini; L Bruni; P Vignetti; G Finocchi
Journal:  Minerva Pediatr       Date:  1977-11-17       Impact factor: 1.312

9.  [Ring chromosome 15 in a child (author's transl)].

Authors:  S Scheibenreiter; H Frisch
Journal:  Wien Klin Wochenschr       Date:  1978-01-06       Impact factor: 1.704

10.  Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl.

Authors:  B Kjessler; K H Gustavson; A Wigertz
Journal:  Clin Genet       Date:  1978-07       Impact factor: 4.438

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  5 in total

1.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

2.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

Review 4.  Two patients with ring chromosome 15 syndrome.

Authors:  M G Butler; A B Fogo; D A Fuchs; F S Collins; V G Dev; J A Phillips
Journal:  Am J Med Genet       Date:  1988-01

Review 5.  Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.

Authors:  César Paz-Y-Miño; Jaime Guevara-Aguirre; Ariane Paz-Y-Miño; Francesca Velarde; Isaac Armendáriz-Castillo; Verónica Yumiceba; Jesús María Hernández; Juan Luis García; Paola E Leone
Journal:  J Med Case Rep       Date:  2018-11-16
  5 in total

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