title: Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.
abstract: Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH) confirmed that the ring chromosome was X-derived. This report expands the phenotypic spectrum of mosaic monosomy X and small ring X chromosomes.
authors.affiliation: Program in Human Genetics, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada.
authors.forename: M J
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: J A
authors.initials: JA
authors.lastname: Ramsay
authors.forename: P
authors.initials: P
authors.lastname: Mohide
authors.forename: D J
authors.initials: DJ
authors.lastname: Tomkins
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D009030:Mosaicism; D012303:Ring Chromosomes; D014960:X Chromosome