Literature DB >> 20358616

A tale of two deletions: a report of two novel 20p13 --> pter deletions.

Anna K McGill1, Matthew T Pastore, Gail E Herman, Sarah Alliman, Jill A Rosenfeld, David D Weaver.   

Abstract

We report on two patients with 1.7 and 1.2 Mb terminal 20p deletions, which have apparently not been reported previously. Both individuals exhibit certain similar features including large fontanelles, ear abnormalities, and seizures. However, even though the deletions are of similar size, there were many disparate features between the two. The deletions in each patient encompass at least 28 genes that may provide useful candidates for ear development and cranial ossification. (c) 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20358616     DOI: 10.1002/ajmg.a.33339

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

Review 1.  Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature.

Authors:  Hung-Hsiang Fang; Shih-Yao Liu; Ying-Fu Wang; Che-Ming Chiang; Chiung-Chen Liu; Chien-Ming Lin
Journal:  Mol Genet Genomic Med       Date:  2019-05-13       Impact factor: 2.183

2.  Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.

Authors:  Maki Igarashi; Vu Chi Dung; Erina Suzuki; Shinobu Ida; Mariko Nakacho; Kazuhiko Nakabayashi; Kentaro Mizuno; Yutaro Hayashi; Kenjiro Kohri; Yoshiyuki Kojima; Tsutomu Ogata; Maki Fukami
Journal:  PLoS One       Date:  2013-07-08       Impact factor: 3.240

3.  Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Authors:  Hong Yan Liu; Jia Huang; Tao Li; Dong Wu; Hong Dan Wang; Yue Wang; Tao Wang; Liang Jie Guo; Qian Nan Guo; Fei Fei Huang; Rui Li Wang; Ying Tai Wang
Journal:  Mol Cytogenet       Date:  2016-04-19       Impact factor: 2.009

  3 in total

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