Literature DB >> 7205434

Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15).

C Stoll, J Levy, M P Roth.   

Abstract

A boy with mental retardation and physical abnormalities has an interstitial deletion of one chromosome 5:46,XY,del(5)(q13q15).

Entities:  

Mesh：

Year:  1980        PMID： 7205434      PMCID： PMC1885931          DOI： 10.1136/jmg.17.6.486

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


  1 in total

1.  [Dysmorphism syndrome, mental retardation and interstitial deletion of long arms of chromosome 5].

Authors:  G Pescia; A C Gaide; E Juillard
Journal:  Ann Genet       Date:  1978-09
  1 in total
  4 in total

1.  Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

Authors:  J F Yung; N Williamson; I Salafsky; J J Hoo
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

2.  Interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q13q22).

Authors:  S Ohdo; H Madokoro; K Hayakawa
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

3.  The zebrafish grime mutant uncovers an evolutionarily conserved role for Tmem161b in the control of cardiac rhythm.

Authors:  Charlotte D Koopman; Jessica De Angelis; Swati P Iyer; Arie O Verkerk; Jason Da Silva; Geza Berecki; Angela Jeanes; Gregory J Baillie; Scott Paterson; Veronica Uribe; Ophelia V Ehrlich; Samuel D Robinson; Laurence Garric; Steven Petrou; Cas Simons; Irina Vetter; Benjamin M Hogan; Teun P de Boer; Jeroen Bakkers; Kelly A Smith
Journal:  Proc Natl Acad Sci U S A       Date:  2021-03-02       Impact factor: 11.205

4.  MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

Authors:  N Le Meur; M Holder-Espinasse; S Jaillard; A Goldenberg; S Joriot; P Amati-Bonneau; A Guichet; M Barth; A Charollais; H Journel; S Auvin; C Boucher; J-P Kerckaert; V David; S Manouvrier-Hanu; P Saugier-Veber; T Frébourg; C Dubourg; J Andrieux; D Bonneau
Journal:  J Med Genet       Date:  2009-07-09       Impact factor: 6.318
  4 in total

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