Literature DB >> 8301656

Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.

J Jenderny1, A Caliebe, C Beyer, W Grote.   

Abstract

A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.

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Year:  1993        PMID： 8301656      PMCID： PMC1016610          DOI： 10.1136/jmg.30.11.964

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


  13 in total

1.  Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

Authors:  D F Callen; H J Eyre; M L Ringenbergs; C J Freemantle; P Woodroffe; E A Haan
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

2.  Origin of extra chromosome 21 in 343 families: cytogenetic and molecular approaches.

Authors:  F Dagna Bricarelli; M Pierluigi; M Grasso; P Strigini; L Perroni
Journal:  Am J Med Genet Suppl       Date:  1990

3.  [Transmission of an 18 ring chromosome in two generations in subjects of normal phenotype].

Authors:  C Faugeras; D Barthe
Journal:  J Genet Hum       Date:  1986-08

4.  Parental mosaicism in trisomy 18.

Authors:  N G Beratis; N B Kardon; L Y Hsu; D Grossman; K Hirschhorn
Journal:  Pediatrics       Date:  1972-12       Impact factor: 7.124

5.  Ring chromosome 18 in mother and daughter.

Authors:  K R Christensen; U Friedrich; P Jacobsen; K Jensen; J Nielsen; T Tsuboi
Journal:  J Ment Defic Res       Date:  1970-03

6.  [Ring chromosome 18 46,XY,r(18)].

Authors:  E Benito; A Serrano; F Moreno; J Espinosa; M J Dávila; J J Cardesa; E Galán; J Rubio; L Zarallo
Journal:  An Esp Pediatr       Date:  1987-02

7.  Detection of Ip36 deletions in paraffin sections of neuroblastoma tissues.

Authors:  C Stock; I M Ambros; G Mann; H Gadner; G Amann; P F Ambros
Journal:  Genes Chromosomes Cancer       Date:  1993-01       Impact factor: 5.006

8.  The origin of mosaic Down syndrome: four cases with chromosome markers.

Authors:  N Niikawa; T Kajii
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

9.  Trisomy 18 mosaicism in an adult woman with normal intelligence and history of miscarriage.

Authors:  E Gersdorf; B Utermann; G Utermann
Journal:  Hum Genet       Date:  1990-02       Impact factor: 4.132

10.  Ring chromosome 18 in a mother and son.

Authors:  M A Donlan; C R Dolan
Journal:  Am J Med Genet       Date:  1986-05
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  4 in total

1.  Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.

Authors:  Thomas P Slavin; Kevin Kuruvilla; Christine A Curtis; Laurie A Christ; Anna L Mitchell
Journal:  Am J Med Genet A       Date:  2011-02-22       Impact factor: 2.802

2.  An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

Authors:  Altuğ Koç; Derya Kan; Kadri Karaer; Mehmet A Ergün; Meral Yirmibeş Karaoğuz; Kivilcim Gücüyener; Sophie Hinreiner; Thomas Liehr; E Ferda Perçin
Journal:  Eur J Pediatr       Date:  2007-08-01       Impact factor: 3.183

3.  Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies.

Authors:  Lars T van der Veken; Marianne Mj Dieleman; Hannie Douben; Judith C van de Brug; Raoul van de Graaf; A Jeannette M Hoogeboom; Pino J Poddighe; Annelies de Klein
Journal:  Mol Cytogenet       Date:  2010-07-09       Impact factor: 2.009

4.  Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.

Authors:  Eiman Bagherizadeh; Farkhondeh Behjati; Seyed Hoseinali Saberi; Yousef Shafeghati
Journal:  Indian J Hum Genet       Date:  2011-05
  4 in total

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