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Prenatal morphology of partial monosomy 18q
Summary
Prenatal diagnosis identified partial monosomy 18q in a fetus from a mother with a reciprocal translocation (9:18). This chromosomal abnormality resulted in distinct fetal dysmorphies and biochemical changes.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Medical Genetics
Background:
- Reciprocal translocations are common chromosomal rearrangements.
- Prenatal diagnosis is crucial for identifying fetal chromosomal abnormalities.
- Partial monosomies can lead to significant developmental issues.