Literature DB >> 1524410

Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.

J P Fryns1, A Kleczkowska, E Smeets, H Van Den Berghe.   

Abstract

Inheritance of ring chromosomes is reported infrequently. The authors report on a phenotypically and mentally normal mother with ring chromosome 18 mosaic with a normal cell line and her polymalformed son with non-mosaic 46,XY,r(18) karyotype.

Mesh：

Year:  1992        PMID： 1524410

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  5 in total

1.  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.

Authors:  J Jenderny; A Caliebe; C Beyer; W Grote
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

2.  Adults with Chromosome 18 Abnormalities.

Authors:  Bridgette Soileau; Minire Hasi; Courtney Sebold; Annice Hill; Louise O'Donnell; Daniel E Hale; Jannine D Cody
Journal:  J Genet Couns       Date:  2014-11-19       Impact factor: 2.537

3.  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

Review 4.  Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2017-05-19       Impact factor: 2.009

Review 5.  Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2016-01-28       Impact factor: 2.009
  5 in total

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