Literature DB >> 500090

Ring chromosome 15 syndrome.

J P Fryns, J Timmermans, F D Hondt, B François, L Emmery, H van den Berghe.   

Abstract

Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and feet.

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Mesh：

Year:  1979        PMID： 500090     DOI： 10.1007/bf00278290

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


  8 in total

1.  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

2.  [Ring 15 chromosome: r(15). Identification by controlled denaturation].

Authors:  A Forabosco; B Dutrillaux; G Vassoler; J Lejeune
Journal:  Ann Genet       Date:  1972-12

3.  [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

4.  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

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

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

6.  [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

7.  [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

8.  Analysis of banding patterns and mosaic configurations in a case of ring chromosome 15.

Authors:  M Schmid; I Henrichs; H Nestler; H Knörr-Gärtner; W M Teller; W Krone
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132
  8 in total
  7 in total

1.  Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

Authors:  M Nadal; S Moreno; M Pritchard; M A Preciado; X Estivill; M A Ramos-Arroyo
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

Review 2.  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

3.  Ring chromosome 15 in a patient with features of Fryns' syndrome.

Authors:  G de Jong; R A Rossouw; A E Retief
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

Review 4.  Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors:  D P Duckett; S H Roberts
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Ring (15) chromosome.

Authors:  E Yunis; M Leibovici; L Quintero
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report.

Authors:  Lidia Puchalska-Niedbał; Stanisław Zajączek; Elżbieta Petriczko; Urszula Kulik
Journal:  Case Rep Pediatr       Date:  2014-06-03

Review 7.  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
  7 in total

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