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A boy with developmental delay and a maternally inherited deletion in 15q11q13
1Children's Hospital, Dublin 1, Ireland.
Journal of Medical Genetics
|May 1, 1996
Insights
A deletion on chromosome 15q caused failure to thrive and severe global developmental delay in a male infant. This case highlights the complex genetic basis of developmental disorders.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Chromosome 15q deletions are associated with various genetic disorders.
- Understanding the spectrum of phenotypes related to 15q deletions is crucial for diagnosis and management.
Observation:
- A male infant presented with failure to thrive at 8 weeks of age.
- Cytogenetic and molecular analyses revealed a large proximal deletion of the maternally derived chromosome 15q.
Findings:
- The infant did not exhibit features of Angelman syndrome.
- Severe global developmental delay was evident by 2 years of age.
- The child unfortunately passed away at 2.5 years of age.
Implications:
- This case underscores the phenotypic variability associated with 15q deletions.
- Further research is needed to delineate genotype-phenotype correlations for 15q deletions.
- Early identification and genetic counseling are vital for families affected by chromosomal abnormalities.
Abstract:
A boy was referred at 8 weeks of age for failure to thrive. Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.