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Mild developmental delay in terminal chromosome 6p deletion
Kelly M Chen1, Athena M Cherry, Jin S Hahn
1Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Stanford, California 94305-5208, USA.
American Journal of Medical Genetics. Part A
|August 19, 2004
Summary
Terminal deletions of chromosome 6p are rare genetic conditions. This study reports a case with mild motor delays and normal cognition, highlighting clinical variability in 6p24 deletions.
Area of Science:
- Genetics
- Human Molecular Genetics
- Chromosomal Abnormalities
Background:
- Deletions of the short arm of chromosome 6 (6p deletions) are uncommon genetic disorders.
- Clinical features associated with 6p deletions are highly variable, often including developmental delay, ocular issues, hearing impairment, and congenital heart defects.
Observation:
- This report details a 6-year-old female patient.
- The patient presented with a de novo terminal deletion specifically at chromosome band 6p24.
Findings:
- The patient exhibited mild gross motor delays.
- Cognitive development in this patient was within the normal range.
Implications:
- This case expands the understanding of the clinical spectrum associated with 6p deletions.
- Further research into 6p deletions can refine genotype-phenotype correlations and improve diagnostic accuracy.