Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

Bianco, Bianca; Lipay, Mônica Vannucci Nunes; Guedes, Alexis Dourado; Verreschi, Ieda Therezinha do Nascimento

doi:10.1016/j.fertnstert.2007.09.014

Cited by 23 publications

(33 citation statements)

References 31 publications

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“…However, one of the Y sequences most frequently used in Turner syndrome (TS) patients screening is the SRY gene, because of its localization and its important role in the signaling cascade of sex determining events (3).…”

mentioning

confidence: 99%

OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome

Bianco

Oliveira

Guedes

et al. 2010

Fertility and Sterility

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mentioning

confidence: 99%

OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome

Bianco

Oliveira

Guedes

et al. 2010

Fertility and Sterility

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“…Th ese alterations comprise complete monosomy or partial deletion, duplication or translocation of the X chromosome, as follows: a) Turner syndrome (45X0) -the prevalence of X monosomy is 1:2500. Turner syndrome is characterized by lower height than normal, gonadal dysgenesis and primary amenorrhea 14 . Oocyte deprivation begins mainly in the early childhood as a consequence of accelerated follicle atresia 14 .…”

Section: Structural Alterations Of Chromosomementioning

confidence: 99%

“…Turner syndrome is characterized by lower height than normal, gonadal dysgenesis and primary amenorrhea 14 . Oocyte deprivation begins mainly in the early childhood as a consequence of accelerated follicle atresia 14 . b) Trisomy X (47 XXX) -usually does not cause particular problems, but in some cases PPOI 15 .…”

Section: Structural Alterations Of Chromosomementioning

confidence: 99%

Genetic Etiology of Primary Premature Ovarian Insufficiency

Franić-Ivanišević¹,

Franić

Ivović³

et al. 2016

acc

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SUMMARY -Primary premature ovarian insuffi ciency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. Th e process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specifi c genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.

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“…Within this group of genetic disorders, Turner syndrome is a common one, affecting 1 in 2500 female newborns (COVIC et al [2], BIANCO [3]) that accounts for 1-2% of all clinically recognized pregnancies (MARTINEZ [4]) and for 15% of all spontaneously aborted fetuses (DOMINO [5]). The syndrome is characterized by broad spectrum of features including short stature (98%), gonadal dysgenesis with primary amenorrhea and infertility (95%), sexual infantilism, lymphedema (70%), prominent, anomalous ears with hearing impairment (70%), high palate (82%), short neck (80%), webbing of the neck (65%), broad chest (75%), cubitus valgus (75%) (DOMINO [5]).…”

mentioning

confidence: 99%

“…The syndrome etiology was associated with complete or partial monosomy of the X chromosome; just half of Turner syndrome patients are pure monosomic for the X chromosome, the rest bearing a multitude of chromosomal aberrations including: the presence of an isochromosome of the long arm of the X, ring X, mosaicism for two or more normal or abnormal cell lines that in 3-6% of cells, the second sex chromosome is Y (PREMI [6]). It is estimated that more than 12% of patients with Turner syndrome are Y-positive but cytogenetic analysis failed to detect it because of the low-frequency mosaicism or restricted to certain tissues, translocation of Y material in X chromosome or autosomes (BIANCO [3]) or instability of chromosomes with structural aberrations. The presence of Y-chromosome material in Turner syndrome patients increases the risk of developing gonadal tumors like benign tumor DA VID PUBLISHING D gonadoblastoma, which has considerable malignant potential (GRAVHOLT [7]), dysgerminoma, or non-tumoral androgen-producing lesions (SIEGEL [8]).…”

mentioning

confidence: 99%

Sex Chromosomes Mosaicism Detection by Quantitative Fluorescent PCR Based Technique

Stan¹,

Dragomir²,

Tudor³

et al. 2012

UCMS

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Background:The X and Y chromosomes may break the rules of meiosis resulting eggs or sperms with wrong number of sex chromosomes. Missing or extra copies of sex chromosomes into the zygote produced by such sperm and egg are supposed to be the cause of infertility, growth abnormalities, and, in some cases, behavioral and learning problems. Mosaics are possible for all types of sex chromosomes abnormalities (SCA). SCAs are detected before birth using different techniques, such as, combining fetal conventional cytogenetics, FISH and a new rapid method based on quantitative fluorescence polymerase chain reaction (QF-PCR) technology. Objectives: To assess low-level sex chromosome mosaicism using OF-PCR technique and to compare the data with the results of FISH and conventional cytogenetics. Methods: QF-PCR test for chromosome 13, 18, 21 trisomies and sex chromosomes aneuploidies detection was used. Results: Five sex chromosomes mosaicism cases were prenatally detected and another case of 45, X/47, XYY Turner's syndrome was reported by karyotype technique. Conclusions: The QF-PCR assay is a prenatal diagnosis technique that allows the rapid detection of selected chromosomes aneuploidies, thus relieving the maternal anxiety and facilitating options in pregnancy. Also the results confirm the ability of prenatal diagnosis method QF-PCR to provide rapidly reliable information about fetal sex chromosome mosaic state.

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Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome: report of 3 cases

Cited by 23 publications

References 31 publications

OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome

OCT4 gonadal gene expression related to the presence of Y-chromosome sequences in Turner syndrome

Genetic Etiology of Primary Premature Ovarian Insufficiency

Sex Chromosomes Mosaicism Detection by Quantitative Fluorescent PCR Based Technique

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