Literature DB >> 3706404

Ring chromosome 18 in a mother and son.

M A Donlan, C R Dolan.   

Abstract

Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.

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Mesh：

Year:  1986        PMID： 3706404     DOI： 10.1002/ajmg.1320240121

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 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.  Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

Authors:  K D MacDermot; E Jack; A Cooke; C Turleau; R H Lindenbaum; J Pearson; C Patel; P M Barnes; J Portch; M D Crawfurd
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

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.  Inherited ring chromosomes: an analysis of published cases.

Authors:  G Kosztolányi; K Méhes; E B Hook
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132
  4 in total

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