Literature DB >> 3612710

Ring 20 chromosome phenotype.

B Porfirio, M G Valorani, A Giannotti, G Sabetta, B Dallapiccola.   

Abstract

A baby with a 46,XY,r(20) karyotype is described. The distinguishing features of this rare chromosome anomaly are analysed in the light of the suggested r(20) syndrome.

Entities:  

Mesh：

Year:  1987        PMID： 3612710      PMCID： PMC1050106          DOI： 10.1136/jmg.24.6.375

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


  3 in total

1.  Usefulness of chromosome catalog in delineating new syndromes.

Authors:  D S Borgaonkar; Y E Lacassie; C Stoll
Journal:  Birth Defects Orig Artic Ser       Date:  1976

2.  Ring formation of chromosomes nos. 19 and 20.

Authors:  I A Uchida; C C Lin
Journal:  Cytogenetics       Date:  1972

3.  Ring 20 chromosome in a child with seizures, minor anomalies, and retardation.

Authors:  J M Stewart; N Cavanagh; D T Hughes
Journal:  Arch Dis Child       Date:  1979-06       Impact factor: 3.791
  3 in total
  4 in total

1.  Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Authors:  Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Journal:  Ital J Pediatr       Date:  2009-04-27       Impact factor: 2.638

2.  Familial ring (20) chromosomal mosaicism.

Authors:  E Back; I Voiculescu; M Brünger; G Wolff
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

Review 3.  Chromosome 20 long arm deletion in an elderly malformed man.

Authors:  F Shabtai; E Ben-Sasson; S Arieli; J Grinblat
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

4.  Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone.

Authors:  Yu Liu; Ying Yang; Liming Chu; Shuai Ren; Ying Li; Aimin Gao; Jing Wen; Wanling Deng; Yan Lu; Lingyin Kong; Bo Liang; Xiaoshan Shao
Journal:  Front Genet       Date:  2022-03-24       Impact factor: 4.599
  4 in total

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