Literature DB >> 3760834

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

C Faugeras, D Barthe.   

Abstract

We report the clinical and cytogenetic findings on three cases with ring chromosome 18. These patients are phenotypically apparently normal. The 18 ring chromosome was segregating in two generations. In the available literature, we found only one report of a r (18) transmission through generations, and none report of case without giving any phenotypic effect or mental retardation.

Entities:  

Mesh：

Year:  1986        PMID： 3760834

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


  2 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.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.