Korean J Pediatr.  2004 Nov;47(11):1157-1160.

Review of Chromosomal Analyses Performed in a Single Hospital

• Kim HK
• Koo NH
• Hwang JS
• Kim SH

Abstract

PURPOSE
Chromosomal aberration has an effect on the lives of both patients and families. Peripheral blood chromosomal analysis is useful to make a diagnosis and counsel the patient with chromosomal abnormality. We studied the cases with peripheral blood chromosomal analyses and investigated the positivity of peripheral blood chromosomal analysis.
METHODS
We analyzed 650 patients with chromosomal analyses in Ajou University Hospital during the past 10 years. We used a high-resolution banding technique to diagnose the chromosomal aberrations.
RESULTS
The male to female ratio of the patients was 1.1 : 1. Among 650 patients, 108 patients had chromosomal aberrations(16.6%). Fifty seven out of 313 patients with the congenital anomalies or dysmorphologies had chromosomal aberrations. twenty six out of 166 patients with hematologic disorders had chromosomal aberrations. Fifteen out of 109 patients with developmental delay had chromosomal aberrations. Four out of 24 patients with seizures had chromosomal aberrations. Six out of 39 patients with the aberrant perinatal histories had chromosomal aberrations.
CONCLUSION
Peripheral blood chromosomal analysis is an important diagnostic method in managing patients with chromosomal aberrations. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberration and be useful in managing patients with chromosomal abnormalities.

Keyword

Chromosomes; Aberrations

MeSH Terms

Chromosome Aberrations
Diagnosis
Female
Humans
Male
Molecular Biology
Seizures