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Identification of a cat eye syndrome using DNA sequence dosage analysis
F Bulle1, J Lespinasse, A Pawlak
1Institut National de la Santé et de la Recherche Médicale, Hôpital Henri Mondor, Créteil, France.
Annales De Genetique
|January 1, 1996
Summary
Cat Eye Syndrome (CES) was detected in a woman without the typical phenotype after surgery. Genetic analysis revealed a supernumerary chromosome fragment, indicating amplified 22q11 region DNA, consistent with CES.
Area of Science:
- Genetics
- Human Chromosome Analysis
- Medical Diagnostics
Background:
- Cat Eye Syndrome (CES) is a rare genetic disorder characterized by specific physical abnormalities.
- Diagnosis typically relies on identifying characteristic chromosomal abnormalities.
- Phenotypic variability can complicate diagnosis.
Observation:
- A patient presented with a karyotype revealing a small supernumerary bisatellited chromosome.
- Initial banding analysis suggested a fragment of chromosomes 13, 15, 21, or 22.
- The patient did not exhibit the classic CES phenotype prior to intensive surgery.
Findings:
- Southern blot analysis confirmed DNA amplification in the 22q11 region.
- This genetic finding is strongly indicative of Cat Eye Syndrome.
- The supernumerary chromosome is likely the source of the 22q11 amplification.
Implications:
- This case highlights the potential for CES to present atypically, even in the absence of a clear phenotype.
- Genetic testing, including karyotyping and Southern blot, is crucial for accurate CES diagnosis.
- Understanding chromosomal anomalies like 22q11 amplification is vital for genetic counseling and patient management.