Literature DB >> 7906212

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype.

M M Khalifa1, P M MacLeod, A M Duncan.   

Abstract

A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.

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Mesh：

Year:  1993        PMID： 7906212     DOI： 10.1111/j.1399-0004.1993.tb03893.x

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


  7 in total

1.  Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.

Authors:  Andrew J Murphy; Yina Li; Joshua B Pietsch; Chin Chiang; Harold N Lovvorn
Journal:  Pediatr Surg Int       Date:  2011-11-15       Impact factor: 1.827

2.  Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11.

Authors:  P Liu; H Zhang; A McLellan; H Vogel; A Bradley
Journal:  Genetics       Date:  1998-11       Impact factor: 4.562

Review 3.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

4.  A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

Authors:  Y Eugene Yu; Masae Morishima; Annie Pao; Ding-Yan Wang; Xiao-Yan Wen; Antonio Baldini; Allan Bradley
Journal:  Genetics       Date:  2006-02-19       Impact factor: 4.562

5.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

6.  Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Authors:  Tobias Laurell; Johanna Lundin; Britt-Marie Anderlid; Jerome L Gorski; Giedre Grigelioniene; Samantha J L Knight; Ana C V Krepischi; Agneta Nordenskjöld; Susan M Price; Carla Rosenberg; Peter D Turnpenny; Angela M Vianna-Morgante; Ann Nordgren
Journal:  Eur J Hum Genet       Date:  2013-01-30       Impact factor: 4.246

7.  A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.

Authors:  Xiuhong Pang; Huajie Luo; Yongchuan Chai; Xiaowen Wang; Lianhua Sun; Longxia He; Penghui Chen; Hao Wu; Tao Yang
Journal:  PLoS One       Date:  2015-03-27       Impact factor: 3.240
  7 in total

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