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Three children with partial trisomy 1q and partial monosomy 3p.
Journal of Medical Genetics
|October 1, 1986
Summary
This study details a family with three children experiencing partial trisomy 1q and partial monosomy 3p due to balanced translocations. Affected children exhibit severe intellectual disability and scoliosis, highlighting the impact of these chromosomal abnormalities.
Area of Science:
- Human Genetics
- Medical Genetics
- Chromosomal Abnormalities
Background:
- Balanced translocations can lead to unbalanced chromosomal rearrangements in offspring.
- Maternal and paternal translocations can have different inheritance patterns and outcomes.
Observation:
- A kindred with three affected children was identified.
- All three children presented with partial trisomy 1q and partial monosomy 3p.
- The translocation was inherited maternally in one family and paternally in another.
Findings:
- The affected children shared similar clinical features.
- Severe intellectual disability was observed in all three children.
- Severe scoliosis was noted in the two older affected children.
Implications:
- This case illustrates the phenotypic consequences of specific partial trisomies and monosomies.
- Understanding translocation inheritance is crucial for genetic counseling.
- Further research into 1q trisomy and 3p monosomy syndromes is warranted.