Wolf-Hirschhorn syndrome due to a 3 : 1 segregation of a maternal balancedt(4;15)(p16.3;q11) translocation

The Wolf-Hirschhorn syndrome (WHS) is characterized by severe pre- and post natal growth retardation, specific pattern of dysmorphisms, and severe deve lopmental delay. These clinical findings are the result of a deletion withi n the short arm of chromosome 4. Most cases occur de novo and are of patern al origin. Cases due to a balanced translocation are mostly of maternal ori gin and the deletion of distal 4p, including the WHS critical region, is of ten combined with a duplication of the other chromosomal segment involved i n the rearrangement. Here, we report on a newborn female infant with WHS an d pure tertiary monosomy due to a 3 : 1 segregation of a balanced maternal 4;15 translocation. In this context, importance of fluorescence in situ hyb ridization (FISH) with specific probes to determine the exact breakpoints i n unbalanced chromosomal rearrangements with breakpoints localized around k nown microdeletion syndromes is emphasized. Copyright (C) 2000 John Wiley & Sons, Ltd.