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Updated: Aug 10, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter
1Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom. archerhl@cardiff.ac.uk
American Journal of Medical Genetics. Part A
|June 7, 2005
Summary
This study details the first patient with a 19p13.3 deletion, linked to developmental disorders. The identified deletion provides insights into subtelomeric rearrangements and associated congenital anomalies.
Area of Science:
- Genetics
- Human Molecular Genetics
- Clinical Genetics
Background:
- Telomeres, gene-rich chromosomal ends, are prone to recombination.
- Subtelomeric rearrangements are implicated in approximately 5% of developmental disorders.
Observation:
- A patient presented with a unique set of features including distinctive facial appearance, cleft palate, hearing loss, congenital heart defect, keloid scarring, immune issues, and mild learning difficulties.
- Subtelomeric fluorescence in situ hybridization (FISH) identified a 1.2 Mb deletion at 19p13.3-pter.
Findings:
- The deletion spans approximately 60 genes in the 19p13.3 region.
- Candidate genes such as FSTL3 and STK-11 were considered in relation to the observed phenotype.
Implications:
- This case highlights 19p13.3 deletions as a cause of complex congenital malformation syndromes.
- Further investigation of genes within the deleted region is crucial for understanding genotype-phenotype correlations.
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