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

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.

Fluorescence In Situ Hybridization Analysis of Sex-Chromosome Mosaicism in Azoospermic Men

2001 ◽  
Vol 22 (6) ◽  
pp. 970-972 ◽  
Author(s):  
HIROSHI OKADA ◽  
MASAKI DOBASHI ◽  
TAKAFUMI YAMAZAKI ◽  
MASATO FUJISAWA ◽  
SOICHI ARAKAWA ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Sex Chromosome ◽  
Hybridization Analysis ◽  
Chromosome Mosaicism

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 Regional Cerebral Glucose Metabolism in Turner Syndrome

1990 ◽  
Vol 17 (2) ◽  
pp. 140-144 ◽  
Author(s):  
C. Clark ◽  
H. Klonoff ◽  
M. Hayden
Keyword(s):  
Glucose Metabolism ◽  
Turner Syndrome ◽  
Parietal Cortex ◽  
Sex Chromosome ◽  
Occipital Cortex ◽  
Cerebral Glucose Metabolism ◽  
Brain Maturation ◽  
Visual Spatial ◽  
Primary Sensory Cortex ◽  
Regional Cerebral Glucose Metabolism

ABSTRACT:Regional cerebral glucose metabolism was examined in females with Turner syndrome, a sex chromosome abnormality. Previous studies have found a visual/spatial cognitive anomaly in these women but, to date, no abnormalities in brain structure or function have been associated with the condition. In the present study, decreases in regional metabolism were found in the occipital and parietal cortex. The involvement of the occipital cortex, although consistent with the observed cognitive anomalies, has not been suggested previously as an area dysfunction. Because the occipital cortex is a primary sensory cortex, the reduction of glucose metabolism in the parietal cortex may reflect a lack of innervation from the occipital cortex. Besides insight into the functional specialization of the brain, these findings are also consistent with previous reports on animals regarding the effects of estrogen in brain maturation.

Sex-Chromosome Mosaicism of Type XYY/XO

1962 ◽  
Vol 266 (14) ◽  
pp. 699-702 ◽  
Author(s):  
Herbert L. Cooper ◽  
Herbert S. Kupperman ◽  
Orlando R. Rendon ◽  
Kurt Hirschhorn
Keyword(s):  
Sex Chromosome ◽  
Chromosome Mosaicism

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.

Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21

Nature ◽  
1976 ◽  
Vol 260 (5549) ◽  
pp. 320-321 ◽  
Author(s):  
ROBERT M. FINEMAN ◽  
KENNETH K. KIDD ◽  
A. MYRON JOHNSON ◽  
W. ROY BREG
Keyword(s):  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Mosaicism
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