Clinical experience with trisomies 18 and 13

Area of Science:

• Medical Genetics
• Human Genetics
• Clinical Cytogenetics

Background:

• Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are common autosomal trisomies.
• These conditions are associated with significant clinical manifestations and developmental abnormalities.
• Comprehensive data on these syndromes aids in understanding their genetic basis and clinical impact.

Purpose of the Study:

• To summarize clinical, cytogenetic, dermatoglyphic, and postmortem findings for trisomy 18 and trisomy 13.
• To describe specific cases including chromosomal abnormalities like tertiary trisomy 18 and translocations of chromosome 13.
• To compare the features of trisomy 18 and trisomy 13 with each other and with literature data.

Main Methods:

• Review of 29 cases of trisomy 18 and 19 cases of trisomy 13.
• Clinical, cytogenetic, dermatoglyphic, and postmortem data collection and analysis.
• Chromosome banding techniques applied to a subset of cases.

Main Results:

• Detailed clinical and genetic features of 29 trisomy 18 and 19 trisomy 13 cases are presented.
• One case of tertiary trisomy 18 and eight cases with chromosome 13 translocations were identified and described.
• Observed features were compared with published data on these syndromes.

Conclusions:

• The study provides a valuable summary of clinical and cytogenetic data for trisomy 18 and trisomy 13.
• Comparison with literature highlights similarities and differences in the phenotypic expression of these chromosomal disorders.
• This data contributes to the understanding and diagnosis of Edwards syndrome and Patau syndrome.