SummaryA male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5 (46,XY, rec(5), dup q,inv(5)(p15.1q35.1)pat)is reported together with the oral findings. The phenotype was chiefly the cri-du-chat syndrome. Severe retardation of mental and motor development, microencephaly, cardiac malformation, crying and facial appearance unique to the cri-du-chat syndrome were observed. Perioral and intraoral findings included thin upper lip, downturning corners of mouth, micrognathia, shallow palate, and cleft of soft palate. Anterior deciduous teeth were small and canine deciduous teeth were conic. The row of deciduous teeth showed a flat arch-like shape that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption.
Key Wordspericentric inversion, recombinant chromosome, double aneuploidy, partial monosomy 5p, partial trisomy 5q
INTRODUCTIONPartial monosomy 5p and partial trisomy 5q originating from the parental pericentric inversion of chromosome 5 is a rare and complex chromosomal aberration, and only nine cases, namely, eight cases in six families (Faed et aL, 1972;Ebbin et al., 1979;Beemer et aL, 1984;Miyazaki et aL, 1985;Schroeder et al., 1986;Sonoda et aL, 1989) and one fetus (Martin et al., 1988), have been reported since this condition was first reported by Faed et al. in 1972.The authors encountered a male infant with partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5. Detailed oral findings are reported.Received March 4, 1993; Revised version accepted June 24, 1993.