Mosaic double aneuploidy (45,X/47,XX,+8) with aortic dissection.

Area of Science:

• Genetics
• Human Biology
• Medical Science

Background:

• Chromosomal aneuploidy, involving autosomes or sex chromosomes, is common.
• Double aneuploidies combining autosomal and sex chromosome aberrations are rare.
• While Down-Klinefelter and Down-Turner syndromes are documented, trisomy 8-Turner syndrome is exceptionally rare.

Observation:

• A 28-year-old female presented with aortic dissection, exhibiting features of Turner syndrome like short stature and webbed neck.
• Cytogenetic analysis revealed mosaic trisomy 8-Turner syndrome (45,X[17]/47,XX,+8[33]).
• Phenotypic features were consistent with both Turner syndrome and trisomy 8, including skeletal and cardiac abnormalities.

Findings:

• This is the first reported case of mosaic trisomy 8-Turner syndrome presenting with aortic dissection and survival into adulthood.
• FISH analysis confirmed mosaicism, with trisomy 8 present only in XX cells.
• The patient's phenotype did not strictly correlate with the ratio of autosomal and sex chromosomal aberrations.

Implications:

• This case expands the understanding of rare double aneuploidies and their clinical manifestations.
• It underscores the importance of genetic analysis in complex phenotypes with overlapping features.
• Further research is needed to elucidate genotype-phenotype correlations in mosaic trisomy 8-Turner syndrome.