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Partial trisomy 6q: case report with necropsy findings
Journal of Medical Genetics
|May 1, 1987
Insights
This study describes a male infant with partial trisomy 6q, highlighting shared and less common features. The findings expand the understanding of the trisomy 6q syndrome
Area of Science:
- Genetics
- Clinical Medicine
- Pediatrics
Background:
- Partial trisomy 6q is a rare chromosomal abnormality.
- Previous reports describe a specific set of clinical features associated with this condition.
Abstract:
A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.