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Partial trisomy 17p detected by spectral karyotyping
S H Morelli1, D A Deubler, L J Brothman
1Department of Pediatrics, University of Utah, Salt Lake City 84132, USA.
Clinical Genetics
|July 28, 1999
Summary
This study details a child with partial trisomy 17p, identified using spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH). The findings confirm characteristic phenotypic features associated with this rare chromosomal abnormality.
Area of Science:
- Genetics
- Cytogenetics
- Molecular Biology
Background:
- Partial trisomy of chromosome 17p is a rare chromosomal abnormality.
- Accurate characterization of chromosomal abnormalities is crucial for understanding associated phenotypes.
Observation:
- A child presented with phenotypic features including facial anomalies, developmental delay, growth retardation, single transverse crease, inguinal hernia, redundant neck skin folds, congenital heart defect, and club foot.
- 24-color spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) were employed for cytogenetic analysis.
Findings:
- The child was diagnosed with partial trisomy of the short arm of chromosome 17 (trisomy 17p).
- The identified chromosomal abnormality correlated with the observed phenotypic manifestations.
Implications:
- This case highlights the diagnostic utility of SKY in characterizing complex chromosomal rearrangements, such as derivative/marker chromosomes.
- Understanding the genotype-phenotype correlation in rare cytogenetic syndromes aids in diagnosis and genetic counseling.