Different chromosome Y abnormalities in a case with short stature

Area of Science:

• Human Medical Genetics
• Cytogenetics
• Reproductive Biology

Background:

• Short stature in children can have various underlying causes, including genetic factors.
• Chromosome Y abnormalities are associated with a range of developmental and reproductive issues.
• Mosaicism, where an individual has cell lines with different genetic makeup, can complicate diagnosis.

Purpose of the Study:

• To report and analyze a rare case of complex chromosome Y abnormalities in a pediatric patient.
• To correlate specific cytogenetic findings with clinical features in a case of unexplained short stature.
• To emphasize the diagnostic value of karyotyping in patients presenting with short stature.

Main Methods:

• Karyotyping was performed on peripheral blood lymphocyte cultures.
• Classic cytogenetic techniques, including G-banding and C-banding, were utilized.
• Fluorescence in situ hybridization (FISH) analysis confirmed the cytogenetic findings.

Main Results:

• The patient, an 11-year-old boy, presented with short stature.
• Cytogenetic and FISH analyses revealed a rare mosaic karyotype: 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY.
• The identified karyotype represents a complex combination of different Y chromosome structural abnormalities and numerical variations.

Conclusions:

• This case highlights the diagnostic significance of comprehensive karyotyping in evaluating unexplained short stature.
• The rare mosaic karyotype identified provides insights into the phenotypic spectrum associated with Y chromosome abnormalities.
• Further investigation and case reporting are crucial for understanding the clinical implications of complex chromosomal variations.