title: Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.
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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: N M
authors.initials: NM
authors.lastname: Savage
authors.forename: N A
authors.initials: NA
authors.lastname: Maclachlan
authors.forename: C A
authors.initials: CA
authors.lastname: Joyce
authors.forename: I E
authors.initials: IE
authors.lastname: Moore
authors.forename: J A
authors.initials: JA
authors.lastname: Crolla
mesh_terms: D002897:Chromosomes, Human, Pair 7; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D009006:Monosomy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012447:Sacrum / Q000002:abnormalities*; D014178:Translocation, Genetic