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Distinct phenotype in maternal uniparental disomy of chromosome 14
S Healey1, F Powell, M Battersby
1Queensland Institute of Medical Research, Brisbane, Australia.
Insights
Maternal uniparental disomy for chromosome 14 (mUPD14) was identified in a child with a rare translocation. This finding suggests a distinct mUPD14 syndrome with specific developmental and physical traits.
Area of Science:
- Genetics
- Human Development
- Reproductive Biology
Background:
- Maternal uniparental disomy (mUPD) occurs when a child inherits two copies of a chromosome from their mother and none from their father.
- Chromosome 14 abnormalities can lead to various developmental disorders.
- Robertsonian translocations are structural rearrangements of chromosomes that can affect inheritance patterns.
Observation:
- A 4-year-old girl presented with arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay.
- The child was diagnosed with a de novo Robertsonian translocation, specifically 45,XX,t(13q,14q).
- Genetic analysis revealed maternal uniparental disomy for chromosome 14 (mUPD14) in this patient.
Findings:
- The patient's phenotype, characterized by specific physical and developmental features, aligns with previously reported cases involving mUPD14.
- The combination of a Robertsonian translocation and mUPD14 in this child provides new insights into chromosomal disorders.
- Distinct common traits observed across affected individuals suggest the existence of a mUPD14 syndrome.
Implications:
- This case expands the understanding of the phenotypic spectrum associated with mUPD14.
- Identifying a potential mUPD14 syndrome aids in genetic counseling and diagnostic approaches for similar cases.
- Further research into the mechanisms underlying mUPD14 and its associated translocation is warranted to elucidate its impact on development.
Abstract:
We report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4-year-old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome.