Medical applications (indications of genetic testing, karyotyping, chromosomal culture, analysis) :
1. Multiple congenital anomalies:
Birth defects > one developmental regions of the body
A. Confirmation of a clinical diagnosis
B. Estimate recurrence risk of future sibling
2. Dysmorphic features or well-defined syndrome e.g down syndrome
3. Unexplained Mental retardation (chromosomal abnormalities are responsible for 1/3 50% of MR which is due to genetic factor)
4. Pubertal failure
5. Ambiguous genitalia
Provide diagnosis e.g turner, klinfilter
If Normal karyotyping → other endocrinal disorders
6. Infertility: at least 5% of infertile men are killfilter.
7. Recurrent spontaneous Abortions and miscarriage:
