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Maternal uniparental disomy for chromosome 14
D A Coviello1, E Panucci, M M Mantero
1Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy.
Acta Geneticae Medicae Et Gemellologiae
|January 1, 1996
Summary
A girl with a rare genetic condition, maternal uniparental disomy for chromosome 14 (mUPD14), presented with severe hypotonia and developmental delays. This case suggests a potential new syndrome linked to chromosome 14 imprinting.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Robertsonian translocations, specifically between chromosomes 13 and 14, are known chromosomal abnormalities.
- Maternal uniparental disomy for chromosome 14 (mUPD14) is a rare genetic condition where an individual inherits two copies of chromosome 14 from their mother and none from their father.
Observation:
- A female infant presented with a de novo balanced 13-14 Robertsonian translocation and a distinct clinical phenotype.
- The phenotype included severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, severe scoliosis, and motor delay, but no intellectual disability.
Findings:
- In situ hybridization confirmed the presence of two centromeres in the rearranged chromosomes.
- Molecular analysis revealed the patient inherited both copies of chromosome 14 from her mother, indicating maternal uniparental disomy for chromosome 14 (mUPD14).
Implications:
- The patient's phenotype shares similarities with previously reported cases of mUPD14.
- This suggests the existence of a potential mUPD14 Syndrome, likely involving imprinting of specific regions on chromosome 14.