The Japanese journal of human genetics · 1993
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод пока не подготовлен
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Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S
Аннотация
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.