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Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
  1. N M Savage,
  2. N A Maclachlan,
  3. C A Joyce,
  4. I E Moore,
  5. J A Crolla
  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.


    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.

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