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Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5
1Second Department of Oral and Maxillo-facial Surgery, School of Dentistry, Niigata University, Japan.
Insights
This study details a male infant with cri-du-chat syndrome, caused by a chromosome 5 pericentric inversion. Oral and dental anomalies were observed alongside developmental delays and characteristic facial features.
Area of Science:
- Genetics
- Pediatrics
- Oral Medicine
Background:
- A rare chromosomal abnormality, partial monosomy 5p and partial trisomy 5q, results from a paternal pericentric inversion of chromosome 5.
- This genetic anomaly can lead to a spectrum of developmental and physical challenges.
Observation:
- The reported male infant presented with the cri-du-chat syndrome phenotype.
- Key clinical observations included severe mental and motor developmental retardation, microcephaly, cardiac malformation, and distinctive facial features.
- Specific oral findings encompassed a thin upper lip, downturned mouth corners, micrognathia, a shallow palate, and a cleft of the soft palate.
Findings:
- Dental anomalies were noted, including small anterior deciduous teeth and conical deciduous canine teeth.
- The deciduous teeth formed a wide, short, flat arch.
- No abnormalities in the number or eruption timing of deciduous teeth were observed.
Implications:
- This case highlights the complex interplay between chromosomal abnormalities and phenotypic expression, particularly in oral and dental development.
- Understanding these associations is crucial for early diagnosis and comprehensive management of affected individuals.
- Further research into genotype-phenotype correlations in chromosome 5 abnormalities can refine clinical prognostication and therapeutic strategies.
Abstract:
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.