Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

2014 ◽  
Vol 26 (8) ◽  
pp. 1176 ◽  
Author(s):  
Adriana Valéria Sales Bispo ◽  
Pollyanna Burégio-Frota ◽  
Luana Oliveira dos Santos ◽  
Gabriela Ferraz Leal ◽  
Andrea Rezende Duarte ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
In Situ Hybridisation ◽  
Normal Female ◽  
Fluorescence In Situ Hybridisation ◽  
Partial Monosomy ◽  
Chromosome Mosaicism ◽  
Increased Risk

Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5–12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

scholarly journals Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

2017 ◽  
Vol 88 (3-4) ◽  
pp. 291-297 ◽  
Author(s):  
Tamar G. Baer ◽  
Christopher E. Freeman ◽  
Claudia Cujar ◽  
Mahesh Mansukhani ◽  
Bahadur  Singh ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Sex Chromosome ◽  
Heterogeneous Distribution ◽  
Gonadal Tissue ◽  
Malignancy Risk ◽  
Monosomy X ◽  
Increased Risk ◽  
A Cell ◽  
Chromosome Material

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du­plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

scholarly journals X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions

2009 ◽  
Vol 63 (1-2) ◽  
pp. 1-4
Author(s):  
Irena Andriuškevičiūtė ◽  
Loreta Šalomskienė ◽  
Lina Jurkėnienė ◽  
Algimantas Sinkus
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Wide Spectrum ◽  
Normal Male ◽  
Chromosome Mosaicism ◽  
Lymphocyte Cultures ◽  
Nosological Entity ◽  
The One ◽  
Clinical Conditions ◽  
Pierre Robin

X/XY Chromosome Mosaicism: Turner Syndrome and Other Clinical Conditions The 45,X/46,XY mosaicism shows a wide spectrum of phenotypes ranging from females with Turner syndrome, male or female pseudohermaphroditism, to appearently normal male development. Chromosome anomalies accompanying Turner syndrome were found in lymphocyte cultures of 236 patients. Chromosomal analysis revealed the karyotype 45,X in 118 (50.0%) patients. X monosomy mosaics or structural rearrangements of the X chromosome was established in 112 (47.5%) patients. The Y chromosome was found in six (2.5%) patients with typical features of Turner syndrome. In five mosaics 45,X/46,XY the proportion of the XY clone ranged from 46% to 76%. In one Turner syndrome patient only 47,XYY cells were found (solely blood culture investigated). In most cases of 45,X/46,XY mosaicism, the cause is considered to be the loss of the Y chromosome because of nondisjunction after normal disomic fertilisation. Five other patients with X/XY chromosome mosaicism showed mixed gonadal dysgenesis (two patients), one male pseudohermafroditism, one male with Pierre Robin syndrome, and one normal male phenotype. In two non Turner syndrome patients nondisjunction of the primary clone 46,XY was obvious and resulted in mosaicism 45,X/46,XY/47,XYY, the one patient contained dicentric Y. The similarities between X/XY Turner syndrome and other nosological entity of females possessing Y chromosome — the Swyer syndrome — are discussed.

scholarly journals The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

2021 ◽  
Author(s):  
Francisco Álvarez-Nava
Keyword(s):  
Cell Cycle ◽  
Turner Syndrome ◽  
Low Birthweight ◽  
Sex Chromosome ◽  
Heart Diseases ◽  
Cellular Growth ◽  
Proliferating Cells ◽  
Cycle Frequency ◽  
Increased Risk ◽  
New Findings

Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birthweight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

scholarly journals Strong expression of the neuronal transcription factor FOXP2 is linked to an increased risk of early PSA recurrence in ERG fusion-negative cancers

2013 ◽  
Vol 66 (7) ◽  
pp. 563-568 ◽  
Author(s):  
Laura Stumm ◽  
Lia Burkhardt ◽  
Stefan Steurer ◽  
Ronald Simon ◽  
Meike Adam ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Transcription Factor ◽  
Human Cancer ◽  
In Situ Hybridisation ◽  
Labelling Index ◽  
Secretory Cells ◽  
Fluorescence In Situ Hybridisation ◽  
Normal Prostate ◽  
Increased Risk ◽  
Fusion Type

Background and aimsTranscription factors of the forkhead box P (FOXP1-4) family have been implicated in various human cancer types before. The relevance and role of neuronal transcription factor FOXP2 in prostate cancer is unknown.MethodsA tissue microarray containing samples from more than 11 000 prostate cancers from radical prostatectomy specimens with clinical follow-up data was analysed for FOXP2 expression by immunohistochemistry. FOXP2 data were also compared with pre-existing ERG fusion (by fluorescence in situ hybridisation and immunohistochemistry) and cell proliferation (Ki67 labelling index) data.ResultsThere was a moderate to strong FOXP2 protein expression in basal and secretory cells of normal prostatic glands. As compared with normal cells, FOXP2 expression was lost or reduced in 25% of cancers. Strong FOXP2 expression was linked to advanced tumour stage, high Gleason score, presence of lymph node metastases and early tumour recurrence (p<0.0001; each) in ERG fusion-negative, but not in ERG fusion-positive cancers. High FOXP2 expression was linked to high Ki67 labelling index (p<0.0001) in all cancers irrespective of ERG fusion status.ConclusionsThese data demonstrate that similar high FOXP2 protein levels as in normal prostate epithelium exert a ‘paradoxical’ oncogenic role in ‘non fusion-type’ prostate cancer. It may be speculated that interaction of FOXP2 with members of pathways that are specifically activated in ‘non fusion-type’ cancers may be responsible for this phenomenon.

scholarly journals Altered Brain Structure in Infants with Turner Syndrome

2019 ◽  
Vol 30 (2) ◽  
pp. 587-596 ◽  
Author(s):  
M L Davenport ◽  
E Cornea ◽  
K Xia ◽  
J J Crowley ◽  
M W Halvorsen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Behavioral Problems ◽  
Brain Structure ◽  
Genetic Disorder ◽  
Estrogen Therapy ◽  
Occipital Cortex ◽  
Typically Developing ◽  
Older Individuals ◽  
Older Children ◽  
Increased Risk

Abstract Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.

Testing for sex chromosome mosaicism in Turner syndrome

2006 ◽  
Vol 1298 ◽  
pp. 9-12
Author(s):  
Daniel L. Van Dyke ◽  
Anne E. Wiktor
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Chromosome Mosaicism

scholarly journals Craniofacial growth and development of Turner syndrome children

2009 ◽  
Vol 21 (2) ◽  
Author(s):  
Inne Suherna Sasmita ◽  
Arlette Suzy Puspa Pertiwi ◽  
M Harun Achmad
Keyword(s):  
Turner Syndrome ◽  
Growth And Development ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Chromosome Constitution ◽  
Whole Body ◽  
Craniofacial Growth ◽  
Oral Manifestations ◽  
Permanent Molars ◽  
First Permanent Molars

Turner syndrome is a genetic disorder which characterized by specific physical appearance and the lost of one of sex chromosome in females. The most frequent chromosome constitution in Turner syndrome is 45X. This disorder may cause an interruption of growth and development in the whole body as well as in the craniofacial region. The oral manifestations of Turner syndrome are micrognathia, high palate, malocclusion, and the premature eruption of first permanent molars. This paper will discuss the oral manifestations associated with the craniofacial growth and development of Turner syndrome.

The Role of Genetic Mutations in Y Chromosome Infertility Syndrome

2020 ◽  
pp. 1-6
Author(s):  
Shahin Asadi
Keyword(s):  
Y Chromosome ◽  
Sperm Cell ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Genetic Material ◽  
Genetic Mutations ◽  
Sperm Cells ◽  
Sperm Production ◽  
Chromosome Y

Sex chromosome Y infertility is a genetic disorder that affects sperm production and causes affected men to become infertile. Most men with Y chromosome infertility syndrome have some sperm cells in their urine that can be extracted for this purpose. As the name implies, this type of infertility is caused by changes in the Y sex chromosome. Infertility of the Y sex chromosome is usually caused by the removal of genetic material in areas of the Y chromosome called Azosperm Factor (AZF) A, B or C. Keywords: Azosperm Factor; Oligospermia, Sperm Cell: Sex chromosome Y infertility

Y chromosome mosaicism in 45, X turner syndrome

1989 ◽  
Vol 34 (2) ◽  
pp. 294-296 ◽  
Author(s):  
Harry Ostrer ◽  
C. Mark Clayton
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Chromosome Mosaicism
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