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  Chromosome deletions in 13q33-34: Report of four patients and review of the literature

Walczak-Sztulpa, J., Wisniewska, M., Latos-Bielenska, A., Linné, M., Kelbova, C., Belitz, B., et al. (2008). Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A, 146(3), 337-342. doi:10.1002/ajmg.a.32127.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-808C-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-808D-F
Genre: Journal Article
Alternative Title : Am J Med Genet A

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Walczak-Sztulpa, Joanna1, Author
Wisniewska, Marzena, Author
Latos-Bielenska, Anna, Author
Linné, Maja, Author
Kelbova, Christina, Author
Belitz, Britta, Author
Pfeiffer, Lutz, Author
Kalscheuer, Vera M.2, Author              
Erdogan, Fikret3, Author              
Kuss, Andreas W.4, Author              
Ropers, Hans-Hilger3, Author              
Ullmann, Reinhard5, Author              
Tzschach, Andreas3, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
5Molecular 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: deletion 13q33-34 • mental retardation • array-CGH • microcephaly • EFNB2 • ARHGEF7
 Abstract: Deletions of chromosome bands 13q33-34 are rare. Patients with such deletions have mental retardation, microcephaly, and distinct facial features. Male patients frequently also have genital malformations. We report on four patients with three overlapping deletions of 13q33-34 that have been characterized by tiling-path array-CGH. Patient 1 had mental retardation and microcephaly with an interstitial 4.7 Mb deletion and a translocation t(12;13)(q13.3;q32.3). His mother (Patient 2), who also had mental retardation and microcephaly, carried the identical chromosome aberration. Patient 3 was a girl with a de novo insertion ins(7;13)(p15.1;q22q31) and interstitial 4.5 Mb deletion in 13q33-34. She had mental retardation and microcephaly. Patient 4 was a newborn boy with severe genital malformation (penoscrotal transposition and hypospadias) and microcephaly. He had a de novo ring chromosome 13 lacking the terminal 9.3 Mb of 13q. Karyotype-phenotype comparisons of these and eight previously published del13q33-34 patients suggest EFNB2 as a candidate gene for genital malformations in males. Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly.

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Language(s): eng - English
 Dates: 2008-01-17
 Publication Status: Published in print
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 146 (3) Sequence Number: - Start / End Page: 337 - 342 Identifier: -