chromosomal abnormalities

How are Chromosomal Abnormalities Diagnosed?

Diagnosis typically begins with a thorough clinical evaluation and family history. If a chromosomal abnormality is suspected, genetic testing methods such as:
Karyotyping: To visualize the number and structure of chromosomes.
Fluorescence in situ hybridization (FISH): For detecting specific genetic abnormalities.
Array Comparative Genomic Hybridization (aCGH): To identify submicroscopic chromosomal imbalances.
may be employed to confirm the diagnosis.

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