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Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12)

A Paoloni-Giacobino¹, A Bottani, S P Dahoun

¹Division of Medical Genetics, CMU, Genève, Suisse.

Annales De Genetique

|October 20, 1999

Summary

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A rare genetic condition, pure partial 5q trisomy, was identified in a 14-year-old male with developmental delays. This case adds to the limited understanding of trisomy 5q phenotypes.

Area of Science:

Genetics
Human genetics
Chromosomal abnormalities

Background:

Genetic disorders can manifest with developmental delays and distinct physical features.
Chromosomal translocations are a significant cause of genetic abnormalities, leading to various phenotypes.

Observation:

A 14-year-old male presented with mental retardation, short stature, and dysmorphic features.
Karyotype analysis revealed a pure partial trisomy 5q33-q35 due to adjacent-1 segregation of a paternal balanced translocation t(5;14)(q33;p12).

Findings:

The patient's karyotype was 46,XY,der(14)t(5;14)(q33;p12)pat.
The identified chromosomal abnormality resulted in trisomy for the 5q33-q35 region.
The paternal karyotype confirmed a balanced translocation t(5;14)(q33;p12).

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Implications:

This case contributes to the sparse literature on pure partial 5q trisomies.
Current data, including this case, are insufficient to define a specific phenotype for trisomy 5q33-q35.
Further research is needed to delineate the clinical features associated with this rare chromosomal duplication.