Turner syndrome

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature

C. C. Figueiredo, Kochi, C., Longui, C. A., Rocha, M. N., Richeti, F., Evangelista, N. M. A., Calliari, L. E. P., and Monte, O., Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature, vol. 7, pp. 43-49, 2008.

Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age.

A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome

M. Neves Rocha, Melo, M. Rezende, Longui, C. Alberto, de Oliveira, D. Vilariço, Figueiredo, C. Costa, and Pacchi, P. Roberto, A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome, vol. 4, pp. 749-754, 2005.

Turner syndrome (TS) is one of the most common human chromosomal abnormalities; it is characterized by the presence of one normal X chromosome and the complete or partial loss of the second X chromosome. The early recognition of TS patients allows for adequate therapy for short stature and pubertal sex steroid substitution. We developed a cost-effective molecular diagnostic tool that can be used to identify 45,X TS patients from dried blood spots, for possible use in neonatal screening for TS.

Molecular analysis of an idic(Y)(qter→p11.32::p11.32→qter) chromosome from a female patient with a complex karyotype

R. Fernandez and Pasaro, E., Molecular analysis of an idic(Y)(qter→p11.32::p11.32→qter) chromosome from a female patient with a complex karyotype, vol. 5, pp. 399-406, 2006.

A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. The rearrangement was a result of a meiosis I exchange between sister chromatids at the pseudoautosomal region, followed by centromere misdivision at meiosis II.

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