Literature DB >> 839504

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

R A Pfeiffer, R Dhadial, W Lenz.   

Abstract

Mosaicism of cells with a normal karyotype or with a ring chromosome no. 15 was found in a girl with hypoplasia of the thumbs, club feet, mental retardation, and short stature, which seems to be a feature of this chromosomal aberration.

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Mesh：

Year:  1977        PMID： 839504      PMCID： PMC1013510          DOI： 10.1136/jmg.14.1.63

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Ring chromosome D (13) associated with multiple congenital malformations.

Authors:  E Niebuhr; J Ottosen
Journal:  Ann Genet       Date:  1973-09

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

Authors:  C Stoll; J G Juif; J C Luckel; C Lausecker
Journal:  Humangenetik       Date:  1975
  3 in total
  6 in total

1.  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

2.  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 3.  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

4.  Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9.

Authors:  J P Fryns; A Lambrechts; H Jansseune; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

5.  Ring (15) chromosome.

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

Review 6.  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
  6 in total

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