PARTIAL MONOSOMY-5P AND PARTIAL TRISOMY-5Q DUE TO PATERNAL PERICENTRIC-INVERSION OF CHROMOSOME-5

Citation
K. Ono et al., PARTIAL MONOSOMY-5P AND PARTIAL TRISOMY-5Q DUE TO PATERNAL PERICENTRIC-INVERSION OF CHROMOSOME-5, JPN J HUM G, 38(3), 1993, pp. 319-328
Citations number
17
Categorie Soggetti
Genetics & Heredity
ISSN journal
09168478
Volume
38
Issue
3
Year of publication
1993
Pages
319 - 328
Database
ISI
SICI code
0916-8478(1993)38:3<319:PMAPTD>2.0.ZU;2-7
Abstract
A male infant with partial monosomy 5p and partial trisomy 5q due to p aternal 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 p henotype was chiefly the cri-du-chat syndrome. Severe retardation of m ental and motor development, microencephaly, cardiac malformation, cry ing and facial appearance unique to the cri-du-chat syndrome were obse rved. Perioral and intraoral findings included thin upper lip, down-tu rning corners of mouth, micrognathia, shallow palate, and cleft of sof t palate. Anterior deciduous teeth were small and canine deciduous tee th were conic. The row of deciduous teeth showed a flat arch-like shap e that was very wide but short in length. No abnormality was noted in the number of deciduous teeth or the timing of eruption.