Literature DB >> 20087602

Array CGH defined interstitial deletion on chromosome 14: a new case.

Maria Piccione1, Vincenzo Antona, Valeria Scavone, Michela Malacarne, Mauro Pierluigi, Marina Grasso, Giovanni Corsello.   

Abstract

Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

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Year:  2010        PMID： 20087602     DOI： 10.1007/s00431-009-1128-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  37 in total

1.  Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region.

Authors:  Jérôme Cavaillé; Hervé Seitz; Martina Paulsen; Anne C Ferguson-Smith; Jean-Pierre Bachellerie
Journal:  Hum Mol Genet       Date:  2002-06-15       Impact factor: 6.150

2.  A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain.

Authors:  Hervé Seitz; Hélène Royo; Marie-Line Bortolin; Shau-Ping Lin; Anne C Ferguson-Smith; Jérôme Cavaillé
Journal:  Genome Res       Date:  2004-08-12       Impact factor: 9.043

3.  Chromosomal localization of the human alpha 1-antitrypsin gene (PI) to 14q31-32.

Authors:  W T Schroeder; M F Miller; S L Woo; G F Saunders
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

4.  Rapid detection of human chromosome 21 aberrations by in situ hybridization.

Authors:  P Lichter; T Cremer; C J Tang; P C Watkins; L Manuelidis; D C Ward
Journal:  Proc Natl Acad Sci U S A       Date:  1988-12       Impact factor: 11.205

5.  Molecular analysis redefines three human chromosome 14 deletions.

Authors:  R F Wintle; T Costa; R H Haslam; I E Teshima; D W Cox
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

Authors:  D Meschede; R Exeler; B Wittwer; J Horst
Journal:  Am J Med Genet       Date:  1998-12-28

7.  Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype.

Authors:  S A Karnitis; K Burns; K W Sudduth; W L Golden; W G Wilson
Journal:  Am J Med Genet       Date:  1992-09-15

Review 8.  What's new in the neuro-cardio-facial-cutaneous syndromes?

Authors:  Ellen Denayer; Eric Legius
Journal:  Eur J Pediatr       Date:  2007-07-05       Impact factor: 3.183

9.  A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

Authors:  Kamilla Schlade-Bartusiak; Holly Ardinger; Diane W Cox
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

10.  Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.

Authors:  B C Byth; M T Costa; I E Teshima; W G Wilson; N P Carter; D W Cox
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
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  2 in total

1.  Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype.

Authors:  Mariluce Riegel; Lilia Ma Moreira; Layla D Espirito Santo; Maria Betânia P Toralles; Albert Schinzel
Journal:  Mol Cytogenet       Date:  2014-11-19       Impact factor: 2.009

2.  A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Authors:  Emeli Pontén; Sofia Frisk; Fulya Taylan; Raquel Vaz; Sandra Wessman; Leanne de Kock; Niklas Pal; William D Foulkes; Kristina Lagerstedt-Robinson; Ann Nordgren
Journal:  J Med Genet       Date:  2020-11-18       Impact factor: 6.318
  2 in total

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