Literature DB >> 9147894

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

M Descartes1, K Keppler-Noreuil, J Knops, J W Longshore, W H Finley, A J Carroll.   

Abstract

Deletion of chromosome 4q31-->pter has been characterized as a distinctive malformation syndrome. We report a mother and two sons with deletion of the long arm (q) of chromosome 4 del(4)(q34.2).

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Mesh：

Year:  1996        PMID： 9147894     DOI： 10.1111/j.1399-0004.1996.tb02733.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

1.  4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome.

Authors:  Goran Cuturilo; Björn Menten; Aleksandar Krstic; Danijela Drakulic; Ida Jovanovic; Vojislav Parezanovic; Milena Stevanovic
Journal:  Eur J Pediatr       Date:  2011-07-22       Impact factor: 3.183

2.  Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings.

Authors:  Matthew Vanlandingham; Tuan V Nguyen; Omar A Abdul-Rahman; Andrew Parent; Jun Zhang
Journal:  Neurol Sci       Date:  2008-11-27       Impact factor: 3.307

Review 3.  Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

Authors:  Michael R Rossi; Miriam S DiMaio; Bixia Xiang; Kangmo Lu; Hande Kaymakcalan; Margretta Seashore; Maurice J Mahoney; Peining Li
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

4.  Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.

Authors:  Mohammed Al-Owain; Namik Kaya; Hamad Al-Zaidan; Ibrahim Bin Hussain; Hadeel Al-Manea; Hindi Al-Hindi; Shelley Kennedy; M Anwar Iqbal; Hamad Al-Mojalli; Albandary Al-Bakheet; Anne Puel; Jean-Laurent Casanova; Saleh Al-Muhsen
Journal:  Clin Dev Immunol       Date:  2010-12-14

5.  Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.

Authors:  Karine Morcel; Tanguy Watrin; Laurent Pasquier; Lucie Rochard; Cédric Le Caignec; Christèle Dubourg; Philippe Loget; Bernard-Jean Paniel; Sylvie Odent; Véronique David; Isabelle Pellerin; Claude Bendavid; Daniel Guerrier
Journal:  Orphanet J Rare Dis       Date:  2011-03-15       Impact factor: 4.123

Review 6.  Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Authors:  Barbara Vona; Indrajit Nanda; Cordula Neuner; Jörg Schröder; Vera M Kalscheuer; Wafaa Shehata-Dieler; Thomas Haaf
Journal:  BMC Med Genet       Date:  2014-06-25       Impact factor: 2.103

7.  Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Authors:  Juan Pablo Meza-Espinoza; Enrique Sáinz González; Christian J N León-León; Eliakym Arámbula-Meraz; José Alfredo Contreras-Gutiérrez; Noemí García-Magallanes; Jesús Madueña-Molina; Fred Luque-Ortega; Salvador Cervín-Serrano; Verónica Judith Picos-Cárdenas
Journal:  Mol Cytogenet       Date:  2020-05-19       Impact factor: 2.009
  7 in total

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