title: Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.
abstract: We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). The karyotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter --> q22::q22 --> pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.
authors.affiliation: Departamento de Genética, Centro de Ciências Biológicas, Universidade Federal de Pernambuco, Recife, PE, Brazil.
authors.forename: P
authors.initials: P
authors.lastname: Burégio-Frota
authors.forename: L
authors.initials: L
authors.lastname: Valença
authors.forename: G F
authors.initials: GF
authors.lastname: Leal
authors.forename: A R
authors.initials: AR
authors.lastname: Duarte
authors.forename: A V S
authors.initials: AV
authors.lastname: Bispo-Brito
authors.forename: E M
authors.initials: EM
authors.lastname: Soares-Ventura
authors.forename: T J
authors.initials: TJ
authors.lastname: Marques-Salles
authors.forename: M T M C
authors.initials: MT
authors.lastname: Nogueira
authors.forename: M T C
authors.initials: MT
authors.lastname: Muniz
authors.forename: M L M
authors.initials: ML
authors.lastname: Silva
authors.forename: F
authors.initials: F
authors.lastname: Hunstig
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: N
authors.initials: N
authors.lastname: Santos
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D007446:Chromosome Inversion / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D014424:Turner Syndrome / Q000235:genetics*; D055815:Young Adult