Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome
نویسندگان
چکیده
منابع مشابه
Y-Chromosome Detection in Turner Syndrome
Turner syndrome is a chromosomal disorder characterized by the presence of a single normal X chromosome in women. Additionally to the X chromosome monosomy, other cell lines can co-exist, containing the Y chromosome or part of it. The presence of Y chromosome in patients with Turner syndrome represents an increased risk (1530%) of developing gonadoblastoma. In this study we screened for the abs...
متن کامل[Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].
OBJECTIVE To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome using molecular techniques. DATA SOURCE A literature search was performed in Pubmed, limiting the period of time to the years 2005 to 2014 and using the descriptors: Turner syndrome and Y sequences (n=26), and Turner syndrome and Y-chromosome material (n=27). The inclusion criteria...
متن کاملRing Chromosome 13 and Ambiguous Genitalia
Ambiguous genitalia, known to be associated with sex chromosome disorders, may also be seen with autosomal chromosome anomalies. Herein, we report a case with ambiguous genitalia and ring chromosome 13. Ring chromosome 13 is a rare genetic anomaly in which the loss of genetic material determines the clinical spectrum.
متن کاملY chromosome in Turner syndrome: review of the literature.
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abn...
متن کاملRing chromosome 13 in an infant with ambiguous genitalia.
Ring chromosome is a rare chromosomal abnormality. We report a case of ring chromosome 13 associated with ambiguous genitalia. Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes.
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2008
ISSN: 1311-0160
DOI: 10.2478/v10034-008-0024-y