Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat

We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakp oints were localized and the regions of duplication and deletion were defin ed by fluorescence ill situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two o f these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, mi croretrognathia and short neck. These findings and some aspects of the neon atal course were consistent with the phenotype previously reported for dupl ication of distal 7q. without associated monosomy for sequences from anothe r chromosome. Copyright (C) 1999 John Wiley & Sons, Ltd.