Literature DB >> 15316977

Mild developmental delay in terminal chromosome 6p deletion.

Kelly M Chen1, Athena M Cherry, Jin S Hahn, Gregory M Enns.   

Abstract

Deletions involving the short arm of chromosome 6 are relatively rare. Although features of this condition are variable, common findings include developmental delay, ocular abnormalities, hearing loss, and cardiac defects. In an effort to define further the clinical variability of this condition, we report a 6-year-old female with a de novo terminal deletion of chromosome 6 at band 6p24, with mild gross motor delays and normal cognition. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 15316977     DOI: 10.1002/ajmg.a.30127

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


  5 in total

1.  Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome-Literature Review.

Authors:  Piero Pavone; Simona Domenica Marino; Giovanni Corsello; Martino Ruggieri; Danilo Castellano Chiodo; Silvia Marino; Raffaele Falsaperla
Journal:  J Pediatr Genet       Date:  2019-08-04

2.  Cerebral white matter abnormalities in 6p25 deletion syndrome.

Authors:  M S van der Knaap; M Kriek; W C G Overweg-Plandsoen; K B Hansson; K Madan; J S Starreveld; P Schotman-Schram; F Barkhof; S A M J Lesnik Oberstein
Journal:  AJNR Am J Neuroradiol       Date:  2006-03       Impact factor: 3.825

3.  Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

Authors:  Zhongxia Qi; Linda Jo Bone Jeng; Anne Slavotinek; Jingwei Yu
Journal:  BMC Med Genomics       Date:  2015-07-15       Impact factor: 3.063

4.  Clinical expression of an inherited unbalanced translocation in chromosome 6.

Authors:  Bani Bandana Ganguly; Vijay Kadam; Nitin N Kadam
Journal:  Case Rep Genet       Date:  2011-09-25

5.  Prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus from a Han Chinese family: A case report.

Authors:  Qing-Yang Shi; Yan-Hong Liu; Yong-Sheng Zhang; Xiao-Wei Yu
Journal:  Medicine (Baltimore)       Date:  2020-02       Impact factor: 1.817

  5 in total

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