Literature DB >> 7516119

Deletion (11)(q14.1q21).

R F Stratton1, K H Lazarus, E J Ritchie, A M Bell.   

Abstract

We report on a 4-year-old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial deletion of the long arm of chromosome 11 involving the region 11(q14.1q21).

Entities:  

Mesh：

Year:  1994        PMID： 7516119     DOI： 10.1002/ajmg.1320490310

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

Review 1.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 2.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

3.  Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.

Authors:  Ioannis Papoulidis; Vassilis Paspaliaris; Elisavet Siomou; Sandro Orru; Roberta Murru; Stavros Sifakis; Petros Nikolaidis; Antonios Garas; Sotirios Sotiriou; Loretta Thomaidis; Emmanouil Manolakos
Journal:  Mol Cytogenet       Date:  2015-09-17       Impact factor: 2.009

Review 4.  Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.

Authors:  Renata Nacinovich; Nicoletta Villa; Serena Redaelli; Fiorenza Broggi; Monica Bomba; Patrizia Stoppa; Agnese Scatigno; Angelo Selicorni; Leda Dalprà; Francesca Neri
Journal:  BMC Res Notes       Date:  2014-04-17
  4 in total

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