Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
case_report · Level V
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- Record sourced from PubMed, PMID 9350825.
- Also identified by PMC identifier 1051099.
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Abstract
A fetus with severe sacral agenesis and intrauterine growth retardation, ascertained at prenatal diagnosis, was found to be carrying an unbalanced form of a paternal balanced reciprocal translocation (7;19)(q36.1;q13.43), resulting in functional monosomy for 7q36.1-->qter. Necropsy confirmed that the fetus had isolated sacral agenesis type II. A critical region for autosomal dominant sacral agenesis has recently been mapped to the 7q36 region. This case provides further evidence for a sacral agenesis locus in this region and may help to refine the critical region further.
Medical subject headings
- Chromosomes, Human, Pair 7
- Fetal Diseases
- Monosomy
- Sacrum