Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient |
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| Authors: | Krystina Chrzanowska,Markus Stumm,Magdalena Bialecka,Kathrin Saar,Ewa Bernatowska-Matuszkiewicz,Jacek Michalkiewicz,Slawomir Barszcz,ré Reis,Rolf-Dieter Wegner |
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| Affiliation: | Department of Genetics, The Children's Memorial Health Institute, Warsaw, Poland.;Institute of Human Genetics, Virchow-Klinikum, Humboldt-University. Berlin, Germany;Institute of Human Genetics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany.;Department of Clinical Immunology, The Children's Memorial Health Institute, Warsaw, Poland;Department of Neurosurgery, The Children's Memorial Health Institute, Warsaw, Poland;Microsatellita Center, Max-Delbrtick-Centrum, Berlin, Germany |
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| Abstract: | ![]()
An 8-year-old girl with severe microcephaly of prenatal onset, borderline intelligence, defects of skin pigmentation, deficiency of both humoral and cellular immunity, a normal serum α-fetoprotein level and hypersensitivity to ionizing irradiation is described. Spontaneous chromosomal breakage in lymphocytes together with the clinical presentation led to the diagnosis of ataxia telangiectasia variant (AT-V). In addition, the patient carried a constitutional translocation of paternal origin: 46,XX,t(3;7)(q12;q31.3) pat. In subsequent linkage and haplotype studies in 12 AT-V families with microsatellite markers from each of the translocation breakpoint regions, we could clearly exclude the localization of an AT-V gene to these regions. |
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| Keywords: | AT V gene AT variant (AT V) Berlin breakage syndrome (BBS)-constitutional translocation-gene mapping-Nijmegen breakage syndrome (NBS) |
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