Linkage studies exclude the AT‐V gene(s) from the translocation breakpoints in an AT‐V patient

1997/05/01 by Krystina Chrzanowska, Krystyńa Chrzańowska, Markus Stümm +12
Biochemistry, Genetics and Molecular Biology · #CRISPR and Genetic Engineering #Carcinogens and Genotoxicity Assessment #DNA Repair Mechanisms

paper · doi:10.1111/j.1399-0004.1997.tb02479.x

crossref issued 1997/05/01 · crossref published 1997/05/01 · crossref published-print 1997/05/01 · openalex publication_date 1997/05/01 · crossref published-online 2008/06/28 · crossref created 2010/07/19 · crossref deposited 2023/10/28 · openalex created_date 2025/10/10 · crossref indexed 2026/07/30 · openalex updated_date 2026/07/30

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 alpha-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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