Literature DB >> 15843813

Terminal deletion of chromosome 15q26.1: case report and brief literature review.

Kushal Y Bhakta1, Sarah J Marlin, Joseph J Shen, Caraciolo J Fernandes.   

Abstract

Terminal deletions of chromosome 15q are rare events, with only six cases previously described. Here we describe a seventh case of a terminal deletion of the long arm of chromosome 15, with the present case exhibiting clinical features not previously described.

Mesh：

Year:  2005        PMID： 15843813     DOI： 10.1038/sj.jp.7211301

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  7 in total

1.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

2.  Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

Authors:  Aisling M O'Riordan; Niamh McGrath; Farhana Sharif; Nuala P Murphy; Orla Franklin; Sally Ann Lynch; Michael J O'Grady
Journal:  Eur J Pediatr       Date:  2016-11-08       Impact factor: 3.183

3.  Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Authors:  Marilyn M Li; Manjunath A Nimmakayalu; Danielle Mercer; Hans C Andersson; Beverly S Emanuel
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

Review 4.  Insulin-like growth factors in embryonic and fetal growth and skeletal development (Review).

Authors:  Georgios D Agrogiannis; Stavros Sifakis; Efstratios S Patsouris; Anastasia E Konstantinidou
Journal:  Mol Med Rep       Date:  2014-05-21       Impact factor: 2.952

5.  15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Authors:  Yahya Benbouchta; Nicole De Leeuw; Saadia Amasdl; Aziza Sbiti; Dominique Smeets; Khalid Sadki; Abdelaziz Sefiani
Journal:  Ital J Pediatr       Date:  2021-09-16       Impact factor: 2.638

6.  A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Authors:  Lina Zhu; Fujun Peng; Zengwen Deng; Zhichun Feng; Xiuwei Ma
Journal:  Front Genet       Date:  2022-02-11       Impact factor: 4.599

7.  Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.

Authors:  Josef Davidsson; Anna Collin; Gudrun Björkhem; Maria Soller
Journal:  BMC Med Genet       Date:  2008-01-14       Impact factor: 2.103
  7 in total

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