Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

Abstract

AIM:The objective of this study was to correlate the genotype, of female patients, withshort stature and primary amenorrhea.MATERIALS AND METHODS:One hundred and forty-six subjects were recruited during 2005-2012. Microscopic and automated karyotyping analyses were done by using chromosomes isolated from the lymphocytes using Giemsa banding (GTG) to identify chromosome abnormalities.RESULTS:A total of 146 clinically suspected Turner syndrome (TS) subjects were recruited for the study, of which, 61 patients were identified to have chromosome abnormalities. The chromosomal abnormalities detected were as follows: Monosomy X (n = 19, 13.01%), triple X syndrome (n = 4, 2.7%), mosaic TS (n = 12, 8.21%), XY gonadal dysgenesis (n = 13, 8.9%), and structural abnormalities including X chromosome (n = 15, 10.27%) and one patient each with autosomal changes involving 9qh inversion and translocation of chromosomes 12 and 14.CONCLUSION:Karyotype abnormalities accounting for 46% in this study emphasize the need for karyotype testing in cases of short stature with primary amenorrhea.

Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population

“…A wide spectrum of turner phenotypes are observed in 45, X/46, XX mosaic cases; the eventual phenotype varies from normal female to severe TS stigmata depending very much on the relative proportions of the two cell lines. 76 Generally, the presence of stigmata and severity of associated comorbidities in mosaic 45, X/46, XX individuals are milder than in 45, X individuals. Spontaneous menarche and development of secondary sex characters occurred higher frequencies in compared to classical 45, X individuals.…”

Turner syndrome masquerading as normal early puberty

“…Turner syndrome (TS) is the most common chromosomal aneuploidy that affects 1 in every 2,000 girls, and is characterized by short stature and gonadal dysgenesis in females who lack all or part of one X chromosome 1) . Approximately 50% of patients with TS have complete loss of one X chromosome, whereas the rest of patients with TS display mosaicism or structural abnormalities of the X chromosome, for example, 46, X, i(Xq), 46, X, del(X), 46, X, r(X), etc.…”

A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome

“…Previous animal studies have shown that AR exon 1 deleted females with loss of AR protein exhibited increased atresia, which is positively correlated with an early decline in follicle number leading to accelerated ovarian failure [Shiina et al 2006]. Furthermore, it is known that a partial deletion of the long arm X chromosome, with the critical region Xq13-q26, causes significant ovarian insufficiency and gonodal dysgenesis [Moka et al 2013]. This concurs with the observations of the patient presented here with the absence of ovaries detected by the USG examination.…”