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Identification of a dup(5)(p15.3) by multicolor banding
D Riordan1, A Vust, D E Wickstrom
1Cytogenetics Laboratory, Health Sciences Center, University of Manitoba, Winnipeg, Manitoba, Canada.
Clinical Genetics
|May 29, 2002
Summary
A rare chromosome duplication, dup(5)(p15.3), was identified in a child with developmental delay and attention issues. This genetic finding, also present in her mother and brother, may explain learning and behavioral difficulties.
Area of Science:
- Genetics
- Developmental Pediatrics
- Cytogenetics
Background:
- A 7-year-old female presented with developmental delay and attentional difficulties, with a history of prenatal alcohol exposure but atypical features for Fetal Alcohol Syndrome (FAS).
- Genetic analysis was pursued due to the complex neurodevelopmental and behavioral phenotype.
- The patient exhibited mild dysmorphisms alongside learning and behavioral challenges.
Observation:
- Cytogenetic analysis revealed an unbalanced karyotype with a duplication on chromosome 5 at band 5p15.3 (dup(5)(p15.3)).
- Specific probes confirmed the duplication at 5p15.3, excluding the critical region for Cri-du-chat syndrome at 5p15.2.
- The same dup(5)(p15.3) was identified in the patient's biological mother and maternal half-brother.
Findings:
- The patient's karyotype was 46,XX,add(5)mat.ish dup(5)(p15.3).
- The mother displayed learning and behavioral difficulties, while the half-brother had learning problems and attention deficit disorder (ADD), despite being nondysmorphic.
- This represents the first reported case of a limited duplication of 5p15.3.
Implications:
- The dup(5)(p15.3) may be a novel genetic factor contributing to learning disabilities and attention deficits.
- Further research is needed to fully elucidate the clinical significance of this specific chromosomal duplication.
- This finding expands the understanding of chromosomal abnormalities associated with neurodevelopmental disorders.