title: Ring chromosome 7 and sacral agenesis.
abstract: A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis. Absent sacrum is a frequent finding in patients with 7q terminal deletions; in fact, genes involved in the sacral agenesis are localized in 7q36. However, this anomaly was not described previously in patients with a ring chromosome 7. High resolution G-banding chromosome and fluorescence in situ hybridization (FISH) demonstrated that our patient lost this region during ring formation.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez
authors.forename: A
authors.initials: A
authors.lastname: Sanchís
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: A
authors.initials: A
authors.lastname: Cánovas
authors.forename: S
authors.initials: S
authors.lastname: Peris
authors.forename: M
authors.initials: M
authors.lastname: Estívalis
authors.forename: S
authors.initials: S
authors.lastname: Pons
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D012303:Ring Chromosomes; D012445:Sacrococcygeal Region / Q000002:abnormalities*