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• W2055359692 abstract "We present three cousins who have normal karyotypes, despite having clinical features of Wolf-Hirschhorn syndrome. Fluorescence in situ hybridisation techniques confirmed that all three relatives were monosomic for the distal short arm of chromosome 4 and that a cryptic translocation involving chromosomes 4 and 11 was segregating within the family. Segregation analysis indicated that the risk of an affected child being born to a parent carrying the translocation was 15%. Molecular analysis showed that loci D4S111 and D4S115 were not deleted in the proband, thus excluding these loci from the Wolf-Hirschhorn critical region. Surprisingly, DNA studies also suggested that the translocation breakpoint on chromosome 4 was within the region of a preexisting paracentric inversion." @default.
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• W2055359692 date "1996-03-01" @default.
• W2055359692 modified "2023-09-25" @default.
• W2055359692 title "Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study." @default.
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• W2055359692 doi "https://doi.org/10.1136/jmg.33.3.197" @default.
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