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Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy

  • Published:2013-07 Issue:1 Volume:523 Page:92-98
  • ISSN:0378-1119
  • Container-title:Gene
  • language:en
  • Short-container-title:Gene

Author:

Nguyen-Minh Sylvie,Drossel Katrin,Horn Denise,Rost Imma,Spors Birgit,Kaindl Angela M.

Funder

German Research Foundation

Sonnenfeld Stiftung

Berliner Krebsgesellschaft e.V.

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference33 articles.

1. Partial trisomy of chromosome 18 (pter — q12) following a familial 18;21 translocation rcp(18;21)(q12;q11);Binkert;Hum. Hered.,1990

2. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18;Boghosian-Sell;Am. J. Hum. Genet.,1994

3. The trisomy 18 syndrome;Cereda;Orphanet J. Rare Dis.,2012

4. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q;Cody;Am. J. Med. Genet.,1999

5. Narrowing critical regions and determining penetrance for selected 18q− phenotypes;Cody;Am. J. Med. Genet. A,2009
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