title: A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.
abstract: Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.
authors.affiliation: a Department of Medical Genetics and.
authors.forename: Rasime
authors.initials: R
authors.lastname: Kalkan
authors.affiliation: a Department of Medical Genetics and.
authors.forename: Nermin
authors.initials: N
authors.lastname: Özdağ
authors.affiliation: b Department of Pediatrics , Faculty of Medicine, Near East University , Nicosia , Turkish Republic of Northern Cyprus.
authors.forename: Rüveyde
authors.initials: R
authors.lastname: Bundak
authors.affiliation: a Department of Medical Genetics and.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Çirakoğlu
authors.affiliation: a Department of Medical Genetics and.
authors.forename: Nedime
authors.initials: N
authors.lastname: Serakinci
mesh_terms: D001827:Body Height; D002648:Child; D002875:Chromosomes / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006728:Hormones / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007236:Infant, Small for Gestational Age; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D059285:Pregnancy, Twin; D062085:RNA, Long Noncoding / Q000235:genetics; D011944:Receptors, Androgen / Q000235:genetics*; D014158:Transcription, Genetic; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D006728:Hormones; D062085:RNA, Long Noncoding; D011944:Receptors, Androgen; C077885:XIST non-coding RNA
keywords: Androgen receptor gene; marker chromosome; variant Turner syndrome