45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

Abstract

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism. DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil. METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records. RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone.

37,X/38,XY Mosaicism in a Cryptorchid Bengal Cat with Müllerian Duct Remnants

“…In humans with 45,X/46,XY mosaicism, varying frequencies of the cell lines are described, i.e. 45,X cells ranging between 10-96% [Rosa et al, 2014], but no correlation between the proportion of 45,X/46,XY cell lines in the blood and the phenotype has been reported [Telvi et al, 1999;Tosson et al, 2012]. The proportion of a cell line in the undifferentiated gonad determines its development [Berkovitz, 1992;Telvi et al, 1999], e.g.…”

Case Reporton Turners Syndrome in North Karnataka

“…For patients with 45X/46XY mosaicism, they presumably reflect a wide variety of phenotypes observed in the different proportions of the 45X and 46XY chromosomal cell lines among the tissues in individuals [9,10]. In our report, there is no mosaicism type, phenotypic variation was not observed.…”

“…Drop shot technique was used with sterile Pasteur pipette, and several slides were prepared [8]. With the G-banding method, metaphase spreads were prepared on the slides [9]. First, metaphase spreads were exposed to trypsin for 15 seconds and then placed in Giemsa solution.…”

Wybrane cechy kliniczne w obrębie głowy i szyi u kobiet z zespołem Turnera i kariotypem 45,X/46,XY

“…There are few reports on 45,X/46,XY women with Turner syndrome, they are primarily focused on reproductive organ pathologies [9][10][11][12][13][14][15][16][17][18], and they rarely refer to others, e.g. the cardiovascular system [19].…”

“…A meta-analysis of studies reporting a total of 541 patients with Turner syndrome without Y chromosome material on routine cytogenetic analysis found 5% mosaicism for a Y-containing cell line using molecular techniques [8]. The presence of a Y chromosome in the karyotype causes a wide variety of phenotypes [9] and an increased risk for neoplastic disease compared to TS-women but other karyotypes [10][11][12][13].…”