Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic ...
47,X,i(Xq),Y karyotype in Klinefelter's syndrome This is a case report of 47,X,i(Xq),Y in a 24-year-old infertile male with Klinefelter's syndrome. C staining indicated that this isochromosome X had a single small centromere. BUdR incorporation revealed the isochromosome X to be late ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook isochromosome Also found in:Medical,Encyclopedia,Wikipedia. (ˌaɪsəʊˈkrəʊməˌsəʊm; ˌaɪsəʊˈkrəʊməˌzəʊm) ...
Here we report a 3-year and 11-month old Chinese girl with unexplained proteinuria, who was diagnosed with heterozygous i (Xq) or TS and asymptomatic LMWP due to a “hemizygous” pathogenic variant in the CLCN5 gene on short arm of X chromosome. ...
Xq-isochromosomeMixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, gonadal, and phenotypic abnormalities, characterized by the presence of a testis on one side and streak or an absent gonad on the other, persistence of m眉llerian duct structures and/or wolffian ...
A case of isochromosome Xq Turner syndrome associated with metabolic syndrome and autoimmune thyroiditis Autoimmune thyroiditis in Turner syndrome is more prevalent in women with the X isochromosome karyotype, compared with other karyotypes. The cause of obesi... JW Choi,JW Byun,Y Lee,... 被引量...
恒牙皇冠大小 46 X i(Xq) 染色体宪法 (X 染色体的长臂为 isochromosome) 的六个芬兰女性从牙科类型强制转换来衡量,并与正常妇女、 女性亲属和 45,X 女性相比。冠 46,X i(Xq) 女性的不是比小但甚至小于 45 X 女性的正常妇女的直径。这些结果可被视为 X 染色体 gene(s) 齿冠增长最有可能位于短臂上的间...
isochromosome XqKlinefelter syndromeBackground: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately ...
isochromosome Xqaneuploidy syndromeWe report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY, + i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they ...
A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization . Am J Med Genet 1989 ; 32 : 42 - 44 .Richer, CL, Bleau, G, Chapdelaine, A, Murer-Orlando, H, Lemieux, N, Cadotte, M (1989) Am. J. Med. Genet. 32: pp. 42-44...