| Popis: |
Specific chromosomal abnormality are related to over 70 clinical syndromes representing 0.5-0.7 percent in live births. For the past three years, we were referred 986 individuals with various clinical problems including: congenital malformation, mental retardation, neurodevelopmental disability, infertility, sexual differentiation (male), hermaphroditism, defect in pubertal development and miscarriage etc. There were 125 (12.7%) individuals that were found to have a variety of chromosomal abnormalities. Most of the cases were referred to rule out Down syndrome. Various types of chromosomal abnormalities producing recognizable syndromes were identified, however, none of them was clinically identified prior to chromosomal abnormalities. Utmost caution should be exercised when relating specific clinical features with chromosomal segments. Patients with complex chromosomal abnormalities were further evaluated using loci and whole chromosome painting probes. Clustering of breaks on various chromosomes are being tabulated and their clinical significance with respect to the chromosomal pathology is presented. |
