title: Partial duplication of Xp: a case report and review of previously reported cases.
abstract: We report clinical and cytogenetic findings on a 24-year-old woman with short stature, irregular menses, and other anomalies suggestive of Ullrich-Turner syndrome (UTS). Chromosome analysis documented a de novo duplication of Xp21 without any apparent microscopic deletion. DNA studies showed that part of band Xp22.1 is also duplicated. The clinical findings are compared with 5 other patients with dup(Xp).
authors.affiliation: Center for Human Genetics, School of Medicine, Boston University, Massachusetts 02118.
authors.forename: H E
authors.initials: HE
authors.lastname: Wyandt
authors.forename: L
authors.initials: L
authors.lastname: Bugeau-Michaud
authors.forename: J C
authors.initials: JC
authors.lastname: Skare
authors.forename: A
authors.initials: A
authors.lastname: Milunsky
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D002871:Chromosome Banding; D004247:DNA; D005260:Female; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family; D009693:Nucleic Acid Hybridization; D010053:Ovary / Q000002:abnormalities; D012640:Seizures / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004247:DNA