Literature DB >> 9833071

Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case.

P W Goss1, L Voullaire, R J Gardner.   

Abstract

This is the second reported case of duplication for the segment 10q22.1-q25.1, the first having been in a fetal case. The phenotype is documented in a 12 year old girl, who is mentally retarded and has a distinctive facial dysmorphology.

Entities:  

Mesh：

Year:  1998        PMID： 9833071

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  3 in total

1.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

2.  A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.

Authors:  Miriam Coelho Molck; Milena Simioni; Társis Paiva Vieira; Fabíola Paoli Monteiro; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-04-19

3.  Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.

Authors:  Majed J Dasouki; Erin L Youngs; Karine Hovanes
Journal:  Curr Genomics       Date:  2011-05       Impact factor: 2.236
  3 in total

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