Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S
Second Department of Oral and Maxillo-facial Surgery, School of Dentistry, Niigata University, Japan.
Jpn J Hum Genet. 1993 Sep;38(3):319-28. doi: 10.1007/BF01874142.
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.
本文报告了一名因父亲5号染色体臂间倒位导致部分5p单体和部分5q三体的男婴（46,XY,rec(5), dup q,inv(5)(p15.1q35.1)pat）及其口腔检查结果。其表型主要为猫叫综合征。观察到严重的智力和运动发育迟缓、小头畸形、心脏畸形、猫叫综合征特有的哭声及面容。口周和口腔内表现包括上唇薄、口角下垂、小颌畸形、腭浅及软腭裂。乳牙小，乳尖牙呈圆锥形。乳牙列呈扁平的弓状，宽度很宽但长度较短。乳牙数量及萌出时间未见异常。
