Literature DB >> 1920370

De novo ring chromosome 3: a new case with a mild phenotype.

M McKinley1, A Colley, P Sinclair, D Donnai, T Andrews.   

Abstract

We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype.

Mesh：

Year:  1991        PMID： 1920370      PMCID： PMC1016983          DOI： 10.1136/jmg.28.8.536

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


  6 in total

1.  Partial deletion of the short arm of chromosome 3.

Authors:  J L Tolmie; P Batstone; I Ruthven; D H Gilmore
Journal:  Clin Genet       Date:  1986-06       Impact factor: 4.438

2.  Human ring chromosomes: a report of five cases.

Authors:  D J Picciano; C M Berlin; S L Davenport; C B Jacobson
Journal:  Ann Genet       Date:  1972-12

Review 3.  Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.

Authors:  K Narahara; K Kikkawa; M Murakami; K Hiramoto; H Namba; K Tsuji; Y Yokoyama; H Kimoto
Journal:  Am J Med Genet       Date:  1990-02

4.  The phenotype of ring chromosome 3.

Authors:  G N Wilson; J Pooley; J Parker
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

5.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

6.  De novo del(3)(q2800).

Authors:  M C Alvarez Arratia; H Rivera; M Möller; A Valdivia; A Vigueras; J M Cantu
Journal:  Ann Genet       Date:  1984
  6 in total
  1 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2015-04
  1 in total

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