HUMAN KARYOTYPE ANALYSIS IN DIAGNOSIS VERIFICATION.

Area of Science:

• Human Genetics
• Clinical Cytogenetics
• Reproductive Medicine

Background:

• Clinical cytogeneticists often encounter challenges in differentiating normal chromosomal variants from pathological abnormalities.
• Accurate karyotype analysis is essential for providing reliable medical and genetic prognoses.

Purpose of the Study:

• To present three cases where advanced diagnostic approaches resolved diagnostic ambiguities in chromosome analysis.
• To demonstrate the impact of accurate chromosomal abnormality identification on patient management and reproductive decisions.

Main Methods:

• Utilized additional diagnostic approaches beyond classic cytogenetic tools for detailed karyotype analysis.
• Applied advanced techniques to accurately identify and describe chromosomal abnormalities and polymorphisms.

Main Results:

• Two cases initially suspected of translocations were reclassified as carriers of rare normal chromosome polymorphisms (21pstkstkpss and 20cenh+).
• A third case initially diagnosed with trisomy 22 was found to carry a supernumerary marker chromosome invdup(15)(q13).
• Accurate diagnoses led to informed reproductive choices (pregnancy maintenance, IVF referral) and a more favorable prognosis.

Conclusions:

• Advanced cytogenetic techniques are vital for resolving complex karyotype interpretations.
• Accurate identification of chromosomal variants and abnormalities significantly impacts patient counseling and reproductive outcomes.
• Distinguishing normal polymorphisms from pathological changes ensures appropriate medical and genetic guidance.