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Pure partial trisomy of the short arm of chromosome 5
M O Rethoré1, M C Blois, M Peeters
1Recherches INSERM, Institut de progenèse, Paris, France.
Insights
A male infant presented with multiple dysmorphic features due to trisomy for a specific segment of chromosome 5 (5p13.32-5p14.2). This condition arose from recombination aneusomy in a child whose father was a balanced carrier.
Area of Science:
- Genetics
- Clinical Genetics
- Human Genetics
Background:
- Partial trisomy of chromosome 5p can result in a spectrum of clinical phenotypes.
- Understanding the genetic basis of these conditions is crucial for diagnosis and counseling.
Observation:
- A male infant presented with multiple dysmorphic features.
- Genetic analysis revealed trisomy for the chromosome segment 5p13.32-5p14.2.
- The infant's father was identified as a balanced carrier for an inverted insertion of this segment.
Findings:
- The patient's condition was attributed to recombination aneusomy.
- This case provides a detailed description of a specific partial 5p trisomy.
- Clinical features were compared to other reported cases of isolated partial 5p trisomy.
Implications:
- This case contributes to the understanding of genotype-phenotype correlations in partial 5p trisomy.
- It highlights the importance of parental genetic screening in cases of unexplained dysmorphic features.
- Further research can refine the clinical spectrum associated with this specific chromosomal abnormality.
Abstract:
We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32----5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.