Literature DB >> 513088

18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male.

S J Moedjono, S J Funderburk, R S Sparkes.   

Abstract

The patient was a 27-year-old male with short stature, borderline mental deficiency, strabismus, and a short fourth metacarpal. His karyotype showed deletion of the short arm of a chromosome 18 as the result of de novo fusion centric translocation between chromosomes 13 and 18 (45,XY, --13, --18, +t(13;18) (13qter yields cen yields 18qter).

Entities:  

Mesh：

Year:  1979        PMID： 513088      PMCID： PMC1012619          DOI： 10.1136/jmg.16.5.399

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


  7 in total

Review 1.  Partial monosomies 18. Review of cytogenetical and phenotypical variants.

Authors:  I W Lurie; G I Lazjuk
Journal:  Humangenetik       Date:  1972

2.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

3.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

4.  [Pituitary dwarfism and "Goldenhar type= multiple deformities in a patient with deletion of the short arm of chromosome 18].

Authors:  L Buffoni; A Tarateta; G Aicardi; M G Vianello; E Bonioli
Journal:  Minerva Pediatr       Date:  1976-04-07       Impact factor: 1.312

5.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

6.  The 18 p-syndrome. Report of four cases.

Authors:  J Faust; M Habedank; C Nieuwenhuijsen
Journal:  Eur J Pediatr       Date:  1976-08-16       Impact factor: 3.183

7.  18p--syndrome resulting from 14q/18q 'dicentric' fusion translocation.

Authors:  S J Funderburk; R S Sparkes; I Klisak
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132
  7 in total
  3 in total

1.  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

2.  18q-syndrome and extraskeletal Ewing's sarcoma.

Authors:  M Machin Valtueña; J M Garcia-Sagredo; A Muñoz Villa; C Lozano Giménez; J M Aparicio Meix
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

3.  18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review.

Authors:  Ji Young Choi; Ja Un Moon; Da Hye Yoon; Jisook Yim; Myungshin Kim; Min Ho Jung
Journal:  Children (Basel)       Date:  2022-07-01
  3 in total

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