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  A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures

Busche, A., Klopocki, E., Ullmann, R., Mundlos, S., & Horn, D. (2008). A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics, 51(6), 615-621. doi:10.1016/j.ejmg.2008.06.006.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F8B-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F8C-B
Genre: Journal Article
Alternative Title : Eur J Med Gent

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 Creators:
Busche, Andreas, Author
Klopocki, Eva1, Author              
Ullmann, Reinhard2, Author              
Mundlos, Stefan1, Author              
Horn, Denise, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Molecular 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: Mental retardation; Array CGH; Duplication 2p25.2-p25.3; Deletion 9q34.3
 Abstract: We report on a 26-year-old woman with microcephaly, typical facial features of 9q subtelomeric deletion syndrome, exophthalmos, contractures of elbow and knee joints, severe muscular hypotonia, no ability to walk, and no speech development. Array CGH revealed a cryptic 9q34.3 deletion and 2p25.2-p25.3 duplication transmitted by her mother, who was carrying a balanced translocation of chromosomes 2p and 9q. There are about 50 reported cases of deletions of the subtelomeric part of chromosome 9q, however, duplications of only the terminal part of chromosome 2p are rare. Neuroblastoma, diaphragmatic hernia, neural tube defects, broncho-pulmonary abnormalities, and congenital heart defects are conditions associated with partial trisomy of larger fragments of 2p. To our knowledge there is only one case described with an isolated duplication as distal as in the patient reported here. Joint contractures and exophthalmos observed in this patient are also seen in our patient. These features are not allegeable by the deletion 9q34.3 identified in the patient reported here and may be a hint that terminal duplication of 2p could be associated with exophthalmos and contractures.

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Language(s): eng - English
 Dates: 2008-07-12
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
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Title: European Journal of Medical Genetics
  Alternative Title : Eur J Med Gent
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 51 (6) Sequence Number: - Start / End Page: 615 - 621 Identifier: ISSN: 1769-7212