Literature DB >> 50276

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

C Stoll, J G Juif, J C Luckel, C Lausecker.   

Abstract

Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15). The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.

Entities:  

Mesh：

Year:  1975        PMID： 50276      PMCID： PMC8334144          DOI： 10.1007/BF00278356

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  9 in total

1.  CYTOGENETIC STUDIES IN MENTAL RETARDATION.

Authors:  B TURNER
Journal:  Proc Aust Assoc Neurol       Date:  1963-05

2.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

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

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

4.  Deletion of the long arms of the Y chromosome with normal male development and intelligence.

Authors:  H Langmaid; K M Laurence
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

5.  [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

6.  [Trial classification of D group chromosome long arm deletions. Apropos of a 15q- case].

Authors:  C Laurent; B Noel; M David
Journal:  Ann Genet       Date:  1971-03

7.  [The Dr phenotype: a study of threee cases with a ring D chromosome].

Authors:  J Lejeune; J Lafourcade; R Berger; J Cruveiller; M O Rethoré; B Dutrillaux; D Abonyi; H Jérôme
Journal:  Ann Genet       Date:  1968-06

8.  A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

Authors:  M Mikkelsen; E Niebuhr
Journal:  Ann Genet       Date:  1969-03

9.  Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

Authors:  R S Sparkes; R E Carrel; S W Wright
Journal:  Am J Hum Genet       Date:  1967-09       Impact factor: 11.025
  9 in total
  9 in total

1.  Balanced familial translocation t(5;19)(q12;p or q11) with phenotypical abnormalities in a girl.

Authors:  C Stoll; J M Levy; M Champy
Journal:  Humangenetik       Date:  1975

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.  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

4.  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

5.  Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

Authors:  G N Wilson; S E Sauder; M Bush; I Z Beitins
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

6.  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

Review 7.  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

8.  Ring (15) chromosome.

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

Review 9.  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
  9 in total

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