Two Pregnancies in a 45, X/46, Xr(X)/46, XX Turner Mosaic Patient

Taga, Michiyoshi; Minaguchi, Hiroshi; Saotome, Kyoko

doi:10.1159/000291958

Cited by 7 publications

(2 citation statements)

References 8 publications

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“…Turner's syndrome associated with X ring chromosome, r(X) is rare and there has been no report of pregnancy in Turner's syndrome with 45,X/46,Xr(X)/46,XX mosaicism except in one study24. We identified a patient with 46,Xr(X)/46,XX,i(2q)/46,X mosaicism.…”

Section: Discussionmentioning

confidence: 95%

Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF)

Kumar¹,

Pathak²,

Venkatesh³

et al. 2012

Indian Journal of Medical Research

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Background & objectives:Premature ovarian failure (POF) is defined as the cessation of ovarian function under the age of 40 yr and is characterized by amenorrhoea, hypoestrogenism and elevated serum gonadotrophin levels. The cause of POF remains undetermined in majority of the cases. This study was aimed to investigate the type and frequency of cytogenetic abnormalities in patients with idiopathic POF and also to study the role of oxidative stress in such cases.Methods:Seventy five women with idiopathic POF were included in this study. Chromosome analysis was done in peripheral blood lymphocytes by conventional GTG banding to identify numerical or structural abnormalities. Cytogenetically normal cases were investigated for reactive oxygen species (ROS) levels in their blood by luminol-chemiluminescence assay.Results:Eighteen chromosomal anomalies were identified in POF patients (24%). Majority of the cases were found to have X-chromosome abnormalities (28%). Overall median ROS range was found to be significantly higher (P<0.01) in POF patients [50480 (120,132966) RLU/min] compared to controls [340 (120,5094) RLU/min]. Among these, 50 per cent of the POF patients had higher ROS levels, 20 per cent had medium elevation and 30 per cent were found to have normal values comparable to controls.Interpretation & conclusions:X-chromosome anomalies were found to be the major contributor of POF. Oxidative stress may be the underlying aetiology in idiopathic premature ovarian failure. Thus the results of this study highlight the role of cytogenetic abnormalities and supraphysiological levels of ROS in causation of idiopathic POF. But the role of oxidative stress needs to be confirmed by other studies on patients from different geographical areas and from different ethnicities.

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Section: Discussionmentioning

confidence: 95%

Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF)

Kumar¹,

Pathak²,

Venkatesh³

et al. 2012

Indian Journal of Medical Research

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show abstract

“…Turner's syndrome associated with a ring X chromosome, r (X), has been reported infrequently since Lindsten et al described the first patient (1). In mosaic Turner's syndrome, the case of mosaicism of 45,X/46,X,r (X) is rare and there has been few reports of pregnancy in this type of Turner's syndrome (2). Our case conceived easily without therapeutic intervention for infertility.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous pregnancy in a 45,X/46,X,r (X) Turner's mosaic patient

Yuge

Takai

Nishida

et al. 2003

Acta Obstet Gynecol Scand

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Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

et al. 2000

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Objective: To emphasize the usefulness of fluorescence in situ hybridization (FISH) techniques on uncultured amniocytes for the diagnosis of abnormal mosaic karyotypes. Methods: In the course of three prenatal diagnoses, specific fluorescent probes, coding, respectively, for chromosomes X, Y, 18, 13, and 21, were applied on amniocyte preparations directly after amniocentesis. At least 50 nuclei were counted in each case. Parallel to the FISH procedure, cell cultures were set up in order to obtain karyotypes. FISH and cytogenetic results were then compared. Results: In each case, FISH showed an abnormal mosaic chromosomal constitution, 45,X/46,XX, which was related to the existence of tiny ring X chromosomes in karyotypes. Conclusion: Because very small ring X chromosomes can escape identification when standard cytogenetic techniques are used alone, we show that misdiagnosis can be avoided when FISH is performed beforehand.

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Two Pregnancies in a 45, X/46, Xr(X)/46, XX Turner Mosaic Patient

Cited by 7 publications

References 8 publications

Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF)

Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF)

Spontaneous pregnancy in a 45,X/46,X,r (X) Turner's mosaic patient

Usefulness of Fluorescence in situ Hybridization for the Diagnosis of Turner Mosaic Fetuses with Small Ring X Chromosomes

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