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  Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

Semerci, C. N., Cinbis, M., Ullmann, R., Steininger, A., Bahce, M., Yagci, B., et al. (2010). Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. American Journal of Medical Genetics Part A, 152A(7), 1724-1729. doi:10.1002/ajmg.a.33383.

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Genre: Journal Article
Alternative Title : Am. J. of Med. Genet. Part A

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33383_ftp.pdf (Any fulltext), 172KB
 
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 Creators:
Semerci, C. Nur, Author
Cinbis, Mine, Author
Ullmann, Reinhard1, Author              
Steininger, Anne1, Author              
Bahce, Muhterem, Author
Yagci, Baki, Author
Ozden, Serap, Author
Sabir, Nuran, Author
Gumus, Dilihan, Author
Tepeli, Emre, Author
Arteaga, Jazmín, Author
Mutchinick, Osvaldo M., Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: subtelomeric 6p deletion; partial trisomy 12q; FISH; aCGH
 Abstract: We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes. © 2010

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Language(s): eng - English
 Dates: 2010-05-27
 Publication Status: Published in print
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. of Med. Genet. Part A
Source Genre: Journal
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Pages: - Volume / Issue: 152A (7) Sequence Number: - Start / End Page: 1724 - 1729 Identifier: ISSN: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33383/pdf