Turner’s Syndrome Variant with Three Cell Line Mosaicism and Ring X Chromosome (45, X /46,X r(X)(p21 q25)/46,Xx) in A Saudi Patient
نویسنده
چکیده
Turner’s syndrome is the most common sex chromosomal abnormality in females, affecting an estimated 3 percent of all females conceived. However, the frequency among live born female infants is only 1 in 1500 to 1 in 2500, and as many as 15% of spontaneous miscarriages have a 45,X karyotype. It is estimated that only 1 in 100 embryos with 45, X karyotype survive to term. More than half of all patients with Turner’s Syndrome have mosaic complement. The frequency of physical abnormalities in Turner’s Syndrome vary with the pattern of karyotype.The article presents a case with three cell line mosaicism combined with ring X chromosome, which is quite rare.
منابع مشابه
Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
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Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and unbalanced gene expression. A TS patient with mental retardation (MR), unusually short stature, facial and limb malformations, and karyotypic mosaicism involving SMCs is described. Cytogenetic and fl...
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In the normal population, loss of one of the sex chromosomes leading to monosomy (45,X) is a part of the aging process. In Turner syndrome (TS), the classic karyotype 45,X is found in up to 50% at birth, and others have a second cell line; mosaicism. The aim was to study if the chromosomal pattern in TS women changes over time. Fluorescence in situ hybridization was performed on buccal smear ce...
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Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45...
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