Literature DB >> 8445626

Chromosome 20 long arm deletion in an elderly malformed man.

F Shabtai1, E Ben-Sasson, S Arieli, J Grinblat.   

Abstract

A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.

Entities:  

Mesh：

Year:  1993        PMID： 8445626      PMCID： PMC1016280          DOI： 10.1136/jmg.30.2.171

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


  8 in total

1.  Deletion of the short arm of chromosome 20.

Authors:  P Kiss; M Osztovics
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

2.  Ring 20 chromosome phenotype.

Authors:  B Porfirio; M G Valorani; A Giannotti; G Sabetta; B Dallapiccola
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

3.  Long-arm deletion of 19-20 chromosomes.

Authors:  M Ahmed
Journal:  Lancet       Date:  1972-02-19       Impact factor: 79.321

Review 4.  Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature.

Authors:  G Pierquin; C Herens; P Dodinval; J Frederic; I Weber; J Senterre; J P Fryns
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

5.  Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.

Authors:  M C Silengo; G Lopez Bell; M Biagioli; P Franceschini
Journal:  Clin Genet       Date:  1988-02       Impact factor: 4.438

6.  [Partial monosomy 20q: a new syndrome. Regional assignment of the adenosine deaminase (ADA) locus on 20q132 (author's transl)].

Authors:  J Fraisse; M F Bertheas; F Frère; B Lauras; M O Rolland; C P Brizard
Journal:  Ann Genet       Date:  1981

7.  New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

Authors:  M B Petersen; L Tranebjaerg; N Tommerup; P Nygaard; H Edwards
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

8.  Decreasing mosaicism in Down's syndrome.

Authors:  M G Wilson; J W Towner; I Forsman
Journal:  Clin Genet       Date:  1980-05       Impact factor: 4.438
  8 in total
  6 in total

1.  Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Authors:  J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

2.  A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

Authors:  Meena Balasubramanian; Edward Atack; Kath Smith; Michael James Parker
Journal:  J Hum Genet       Date:  2015-03-12       Impact factor: 3.172

3.  A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Authors:  Ryan N Traylor; Damien L Bruno; Trent Burgess; Robert Wildin; Anne Spencer; Devika Ganesamoorthy; David J Amor; Matthew Hunter; Michael Caplan; Jill A Rosenfeld; Aaron Theisen; Beth S Torchia; Lisa G Shaffer; Blake C Ballif; Howard R Slater
Journal:  PLoS One       Date:  2010-08-27       Impact factor: 3.240

4.  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

5.  Chromosomal localization of mouse and human neurotensin receptor genes.

Authors:  P Laurent; P Clerc; M G Mattei; P Forgez; X Dumont; P Ferrara; D Caput; W Rostene
Journal:  Mamm Genome       Date:  1994-05       Impact factor: 2.957

6.  Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.

Authors:  Thiago Corrêa; Amanda Cristina Venâncio; Marcial Francis Galera; Mariluce Riegel
Journal:  Case Rep Genet       Date:  2020-01-21
  6 in total

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