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  Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis

Bartsch, O., Vlccaronková, Z., Erdogan, F., Ullmann, R., Novotná, D., Spiegel, M., et al. (2007). Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenetic and Genome Research, 119(1 - 2), 158-64. doi:10.1159/000109634.

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Genre: Journal Article
Alternative Title : Cytogenet. Genome Res.

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Bartsch, O., Author
Vlccaronková, Z., Author
Erdogan, Fikret1, Author              
Ullmann, Reinhard2, Author              
Novotná, D., Author
Spiegel, M., Author
Beyer, V., Author
Haaf, Thomas1, Author              
Zechner, U.3, Author              
Seemanová, E., Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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 Abstract: Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the NF1 gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including NF1) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th-25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as well as an unbalanced 7p;13q translocation leading to trisomy of the 7q36.3 subtelomeric region. The patient's mother and grandmother who were phenotypically normal carried the same unbalanced translocation. The 17q11.2 microdeletion had arisen de novo. Array comparative genomic hybridization (CGH) demonstrated gain of a 550-kb segment from 7qter and loss of 2.5 Mb from 17q11.2 (an atypical NF1 microdeletion). We conclude that the patient's phenotype is caused by the atypical NF1 deletion, whereas 7q36.3 trisomy represents a subtelomeric copy number variation without phenotypic consequences. To our knowledge this is the first report that a duplication of the subtelomeric region of chromosome 7q containing functional genes (FAM62B, WDR60, and VIPR2) can be tolerated without phenotypic consequences. The 17q11.2 microdeletion (containing nine more genes than the common NF1 microdeletions) and the 7qter duplication were not accompanied by unexpected clinical features. Most likely the 7qter trisomy and the 17q11.2 microdeletion coincide by chance in our patient.

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Language(s): eng - English
 Dates: 2007-12-14
 Publication Status: Published in print
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 Rev. Type: -
 Identifiers: eDoc: 333743
DOI: 10.1159/000109634
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Title: Cytogenetic and Genome Research
  Alternative Title : Cytogenet. Genome Res.
Source Genre: Journal
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Pages: - Volume / Issue: 119 (1 - 2) Sequence Number: - Start / End Page: 158 - 64 Identifier: ISSN: 1424-8581