Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.
A 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, down-turning 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.
Ono
K
K
Second Department of Oral and Maxillo-facial Surgery, School of Dentistry, Niigata University, Japan.
Ohashi
Y
Y
Nakano
H
H
Togashi
H
H
Kannari
Y
Y
Isono
S
S
D000328:Adult; D000782:Aneuploidy; D002675:Child, Preschool; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D010641:Phenotype; D014314:Trisomy