title: A case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature review.
abstract: Here we describe clinical and cytogenetic data on a female child whom had been referred to our laboratory suspected to have Turner syndrome since she had webbed neck. Cytogenetic analysis revealed that she had deletion at 11q23.2 to 11q terminal so her karyotype was ascertained as 46,XX,del(11)(q23.2). Her parents had normal karyotypes. In addition to many clinical features of del(11q ) syndrome the case had poor vision which is not common for this syndrome. Clinical features of this case and a few published cases will be reviewed briefly.
authors.forename: F
authors.initials: F
authors.lastname: Mahjoubi
authors.forename: F
authors.initials: F
authors.lastname: Razazian
authors.forename: R
authors.initials: R
authors.lastname: Torabi
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D010641:Phenotype; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D015354:Vision, Low / Q000175:diagnosis / Q000235:genetics*