title: [Characteristics of a 3-year-old girl with an additional isochromosome of the long arm of an X-chromosome (47,XX, + i(Xq))].
abstract: Report on a 3 year old female with mild dysmorphies, moderate developmental retardation and dysplasias of multiple thoracic vertebrae. These features are related to an additional isochromosome of the long arm of an X chromosome. The phenotype is difficult to understand if the additional genetic material would be inactivated totally as shown by late replication. In the literature only two similar cases are recorded.
authors.affiliation: Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg.
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: G
authors.initials: G
authors.lastname: Wündisch
mesh_terms: D002675:Child, Preschool; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013904:Thoracic Vertebrae / Q000002:abnormalities*; D014960:X Chromosome