scholarly journals Psychotic disorder and its characteristics in sex chromosome aneuploidies

2009 ◽  
Vol 3 (3) ◽  
pp. 123-132
Author(s):  
Annapia Verri ◽  
Anna Cremante
Keyword(s):  
Turner Syndrome ◽  
Psychotic Disorder ◽  
Sex Chromosome ◽  
Chromosome Anomaly ◽  
Chromosome Anomalies ◽  
Sex Chromosome Aneuploidies ◽  
Paranoid Psychosis

Sex chromosome anomalies have been associated with psychoses. We report a patient with XYY chromosome anomaly who developed a paranoid psychosis. The second case deal with a 51-year-old woman affected by Turner Syndrome and Psychotic Disorder, with a prevalent somatic and sexual focus.

scholarly journals A Rare Variant of Turner Syndrome (the X Isochromosome-X Syndrome): A Case Report

2021 ◽  
Vol 10 (4) ◽  
pp. 177-179
Author(s):  
Hamid Reza Samimagham ◽  
Mitra Kazemi Jahromi
Keyword(s):  
Turner Syndrome ◽  
Rare Variant ◽  
Rare Variants ◽  
Sex Chromosome ◽  
Clinical Manifestations ◽  
Chromosome Anomaly ◽  
Primary Amenorrhea ◽  
Hypergonadotropic Hypogonadism ◽  
Case Presentation ◽  
Genetic Problem

Background: Turner syndrome occurs in nearly one in every 2000-5000 female births. This syndrome is a genetic problem in the female phenotype and the most common sex chromosome anomaly. It is diagnosed based on clinical manifestations and cytogenetic examinations. The classic syndrome (i.e., monosomy X) makes up 50% of the cases while other forms contain X chromosome variants, which do not typically manifest as the classic X phenotype. Case Presentation: This study, presents a rare variant of Turner syndrome reported in a 20-year-old woman presenting with primary amenorrhea, hypothyroidism, and short stature who had hypergonadotropic hypogonadism with hypoplastic ovaries while without the clinical manifestations of the classic Turner syndrome. The karyotype was determined as X isochromosome-X syndrome [46 XXi (Xq)]. Conclusion: This rare syndrome occurs in approximately 7% of the cases of Turner syndrome. Rare variants of the syndrome should also be considered in female patients without the classic manifestations of Turner syndrome.

scholarly journals Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood

2017 ◽  
Vol 45 (2) ◽  
pp. 621-630 ◽  
Author(s):  
Bin Zhang ◽  
Bei-Yi Lu ◽  
Bin Yu ◽  
Fang-Xiu Zheng ◽  
Qin Zhou ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Turner Syndrome ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Massively Parallel ◽  
Triple X Syndrome ◽  
Cell Free Fetal Dna ◽  
Sex Chromosome Aneuploidies

Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother’s peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data

2014 ◽  
Vol 42 (4) ◽  
Author(s):  
Ivanka Bekavac Vlatkovic ◽  
Tomislav Hafner ◽  
Berivoj Miskovic ◽  
Ana Vicic ◽  
Borna Poljak ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Androgen Insensitivity Syndrome ◽  
Second Trimester ◽  
Sex Development ◽  
Retrospective Data Analysis ◽  
Unselected Population ◽  
Mosaic Form ◽  
Sex Chromosome Aneuploidies

AbstractAnalysis of prenatally diagnosed sex chromosome aneuploidies and disorders of sex development (DSDs).This study includes a retrospective data analysis of 46 prenatally detected sex chromosome aneuploidies and one case of 46,XY DSD diagnosed during an 11-year period (2002–2012) at our department.Of the 46 sex chromosome aneuploidies, 29 cases (63.0%) were in the group of a selected population of women according to abnormal first-/second-trimester ultrasound and 17 (37.0%) cases in an unselected population of women who underwent fetal karyotyping because of advanced maternal age. The most common aneuploidy was Turner syndrome in full and mosaic form (50%). Complete androgen insensitivity syndrome was diagnosed in the case of 46,XY DSD.Sex chromosome aneuploidies must be taken into consideration if, in the first or second trimester, abnormalities are revealed on ultrasound, mainly Turner syndrome in full or mosaic form and 47,XYY.

scholarly journals Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions

2020 ◽  
Author(s):  
Ismail Tekesin
Keyword(s):  
Sex Chromosome ◽  
Screening Method ◽  
First Trimester ◽  
Routine Practice ◽  
Cell Free Dna ◽  
Patient Counselling ◽  
Chromosome Anomalies ◽  
Free Dna ◽  
Autosomal Aneuploidy ◽  
Current Guidelines

Abstract Introduction Cell-free DNA (cfDNA) testing is increasingly used as a screening method not only for trisomy (T) 21 but also for T18 and T13, sex chromosome anomalies (SCA) and microdeletions. Based on cases with a positive cfDNA result in our specialised prenatal practice, this study aims to characterise the usage of cfDNA testing and to estimate the positive predictive value (PPV) in routine practice in Germany. Patients and Methods In this retrospective study we analysed the data of all pregnant women with a positive cfDNA result seen between 09/2013 and 12/2019. Women were either referred due to the positive result or the test was initiated in our practice. The primary parameter of interest was the concordance of cfDNA tests with confirmatory genetic testing. Results We encountered 81 cases with a positive cfDNA test (T21: 49.4%; T18: 9.9%; T13: 8.6%; SCA: 22.2%; 22q12del: 8.6%). The PPV was 95.0% for T21, but considerably lower for T18 (55.6%) and T13 (28.6%). For SCAs it was 23.1% and no case with DiGeorge syndrome was confirmed. 63% of the patients had not received a fetal anomaly scan before cfDNA testing. In first-trimester fetuses with a cfDNA test predicting an autosomal aneuploidy, fetal anomalies were detected in 90.3% of the cases. No false positive case had an abnormal US result. Conclusions Despite the excellent specificity of cfDNA tests, the PPV for aneuploidies other than T21 is low in routine practice. In discordance with the current guidelines, cfDNA test is often used without a previous detailed anomaly scan. Our data provide valuable information to assist patient counselling and shared decision making.

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

2018 ◽  
Vol 38 (8) ◽  
pp. 617-619
Author(s):  
Katelynn G. Sagaser ◽  
Blair Stevens ◽  
Jessica Davis ◽  
Hope Northrup ◽  
Aarti Ramdaney
Keyword(s):  
Sex Chromosome ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

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.

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

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