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Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment
Insights
A genetic translocation resulted in a baby girl with developmental delay and dysmorphic features. Her condition reflects both chromosome 2 duplication and chromosome 11 deletion, highlighting the impact of unbalanced translocation products.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Familial translocations can lead to unbalanced chromosomal rearrangements in offspring.
- Understanding the genetic basis of developmental disorders is crucial for diagnosis and management.
Observation:
- A female infant presented with multiple dysmorphic features and developmental delay.
- Karyotyping revealed a partial duplication of chromosome 2 long arm (2q+) and a partial deletion of chromosome 11 long arm (11q-).
Findings:
- The observed chromosomal abnormalities in the infant originated from a paternal balanced translocation, specifically t(2;11)(q33:q25).
- The infant's clinical presentation exhibited features consistent with both 2q+ duplication syndrome and 11q- deletion syndrome.
Implications:
- This case underscores the significance of evaluating both duplicated and deleted chromosomal segments in unbalanced translocation products.
- Accurate genetic diagnosis is essential for predicting clinical outcomes and providing appropriate genetic counseling for families with translocation carriers.
Abstract:
A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.