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GTG-banding result showing the derivative chromosome X (der(X)) of the present case and the normal chromosome X, accompanied by the ideograms of the derivative and the normal chromosome X.
Source publication
Primary amenorrhoea is defined as the absence of menstruation in phenotypic women aged 16 years or older, if secondary sexual characteristics are present. X chromosome abnormalities probably comprise about one half of all cases, including Turner syndrome and X chromosome rearrangements. Conventional banding cytogenetic methods might miss the accura...
Context in source publication
Context 1
... G banding of chromosomes showed mosaic karyotype: mos 45,X[46]/46,X,der(X),del(X)(q26)dup(X)(p11→pter) [54] (Fig. 1). The X-chromosome rearrangement was characterized in detail using FISH and MCB. X-specific centromeric probe showed two positive signals in 52% of the total counted 50 metaphases and in 55% of the 200 interphase nuclei analyzed. A single X-chromosome signal was found in approximately half of the total counted cells, which confirms the ...
Similar publications
Turner's syndrome is the most common cause of primary amenorrhea seen in clinical practice. The syndrome is characterized by absence of one X chromosome [45X0]. About 50% of the Turner syndrome have mosaic forms such as 45X0/46XX or 45X0/46XY. In a female presenting with primary amenorrhea or short stature, possibility of Turner's syndrome must be...
Background:
Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis.
Methods:
We studied females diagnosed with TS at King Abdul Aziz Medical City...
Turner syndrome (TS) is a genetic pathology that affects about 1/2500 newborn females. Turner’s syndrome is characterized by highly variable genetic anomalies that consist in a partial or complete deletion of the X sexual chromosome; it can be present as a monosomy or as a mosaicism with two o three different cellular lines. 50% of the patients wit...
Turner's syndrome is a disorder in females characterized by the absence of all or part of a normal second sex chromosome. It is typically characterized by the combination of physical features and cytogenetics in females. Physical features include short stature, primary amenorrhea, hypogonadism, low hair line at the back of the neck, and digital ano...
Background:
Girls with Turner syndrome (TS) have a high incidence of primary ovarian insufficiency. Recent data show rates of spontaneous thelarche (ST) of 38% and spontaneous menarche (SM) of 15-16%, with higher rates in those with mosaicism.
Summary:
We systematically reviewed the literature for evidence regarding rates of ST and SM in TS and...
Citations
... A variable degree of gonadal dysgenesis occurs in patients with X chromosome rearrangements. The majority of patients have oligomenorrhea, followed by secondary amenorrhea or POI [25]. ...
... Cytogenetically visible rearrangements occur in specific Xq regions. Two main critical regions have been located on the long arm of X chromosome, at Xq13-q21 and at Xq26-q27 [25,26]. A few deletions in distal Xq have also been reported. ...
... Women with phenotypic features suggestive of Turner syndrome, primary amenorrhoea or gonadal dysgenesis (65 women) were excluded. Also 18 women with structural abnormalities in one or more chromosomes (balanced translocation with X chromosome involved, X chromosome abnormalities), blood lymphocyte microchimerism, Fragile X premutation, mutations in the FOXL2 or inhibin INH genes were excluded (Gersak et al., 2004(Gersak et al., , 2010aHarris et al., 2002;Shelling et al., 2000). ...
Low-level X chromosome mosaicism and its clinical relevance are still under debate. It could be interpreted as a technical artefact, genuine mosaicism or as being age-related. This study evaluated the contribution of X chromosome mosaicism in phenotypically normal women with sporadic premature ovarian failure (POF). During 1999-2008, 114 patients with POF and 64 age matched controls were karyotyped. Thirteen patients (11.4%) had true X chromosome mosaicism (>10% of aneuploid cells) and 12 had (10.5%) low-level X-mosaicism (between 6-10% of aneuploid cells). The mean age of women with true and low-level mosaicism was 26.0 ± 5.65 years and 35.92 ± 3.87 years, respectively (P < 0.001). In the control group the incidence of cells with an abnormal number of X chromosomes was 1-3%. The results have practical implications for genetic counselling and fertility treatment. To search and confirm the low-level mosaicism, a higher number of metaphases should be analysed or additional fluorescence in-situ hybridization analysis must be performed. Although peripheral blood does not reflect the situation in ovarian tissue well, it is presumed that there are different aetiological causes for true and low-level X chromosome mosaicism. The possible causes and reproductive significance of low-level X chromosome mosaicism are discussed.
