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Related Experiment Video

Updated: May 22, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Warkany syndrome: a rare case report.

Amit Agrawal¹, Rashmi Agrawal

¹Department of Pediatrics, Chirayu Medical College & Hospital, Near Bairagarh, Bhopal 462030, India.

Case Reports in Pediatrics

|May 19, 2012

Summary

Trisomy 8 mosaicism (T8M) is a rare chromosomal condition with variable symptoms, often leading to missed diagnoses. This case highlights T8M in a young boy with developmental delays and facial differences.

Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Trisomy 8 mosaicism (T8M), also known as Warkany syndrome 2, is a rare chromosomal abnormality.
Characterized by the presence of an extra copy of chromosome 8 in some cells.
Phenotypic presentation is highly variable, complicating diagnosis.

Observation:

A 3-year-old boy presented with distinct facial dysmorphism and global developmental delay.
Diagnostic evaluation was initiated due to the constellation of clinical features.
Genetic analysis confirmed the presence of mosaic trisomy 8.

Findings:

The patient exhibited features consistent with a mosaic form of trisomy 8.
The variability in phenotype underscores the diagnostic challenges associated with T8M.

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Last Updated: May 22, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Early identification is crucial for appropriate management and genetic counseling.

Implications:

This case emphasizes the importance of considering T8M in pediatric patients with unexplained developmental delays and dysmorphic features.
Increased awareness can improve diagnostic rates and timely intervention.
Further research into genotype-phenotype correlations in T8M is warranted.