Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.

Clinical and molecular features of ovarian stimulation in peripubertal girls with mosaic Turner's syndrome.

A case report on atypical chromosomal variations in Turner syndrome.

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome.

Prevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry.

Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.

Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report.

Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.

Letter to Editor: "Unusual Association of 45,X/46,XY Mosaic Turner Syndrome and Müllerian Agenesis".

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

Ring Y chromosome as an unusual cause of severe oligozoospermia.

Meta-Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome.

Clinical Genetic Study of Mosaic Pseudoisodicentric X Chromosome Patient.

Growth hormone therapy and chromosomal mosaicism in turner syndrome: 25 years of growth outcomes in Taiwan.

Combined Application of Multiple Technologies in Prenatal Diagnosis of a Fetus with Mosaic Isodicentric Y Chromosome.

Mosaic Turner Syndrome and Treatment-Resistant Schizophrenia.

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.

Anti-Müllerian hormone as a biomarker of ovarian function and spontaneous puberty in Turner syndrome: a systematic review.

High-level mosaicism for 45,X in 45,X/46,XY at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, a 45,X placenta, hypospadias and unilateral cryptorchidism in the fetus without adverse fetal outcome and perinatal progressive decrease of the 45,X cell line.

44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

45, X/46, XY mosaicism and gender incongruence: ethical, medical, and psychological considerations.

Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.

Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.

[A case of Turner syndrome with double pseudo-isodicentric X chromosome and mosaic karyotype diagnosed prenatally and a literature review].

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution.

Clinical analysis of karyotypes and phenotypes in 87 cases of Turner syndrome during transitional period.

Mental Health Diagnoses Associated With Sex Chromosome Anomalies.

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis.

Unusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis.

Efficacy and Safety of Three-Years Growth Hormone Treatment in Girls With Turner Syndrome and Growth Hormone Deficiency: A Case-Control Study.

Turner Syndrome Complicated by a NONO Gene Variant.

Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?

The epidemiology of disorders of sex development.

Pre-operative Traction in Severe Rigid Kyphoscoliosis - CT-based Navigation Pelvic Pin Insertion in Halo-Pelvic Traction: A Case Report.

Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution.

Turner Syndrome With Central Precocious Puberty During Growth Hormone Therapy: Combined Treatment With a Gonadotropin-Releasing Hormone Analog.

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Placental insufficiency irrespective of offspring karyotype in maternal Turner syndrome: a case series and literature review.

Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.

Turner Syndrome and Gender Incongruence: Considerations for Gender Affirming Hormonal Therapy.

Sagittal Cephalometric Characteristics in Females With Turner Syndrome in Comparison to Nonsyndromic Females: A Meta-Analysis.

First Report on Ovarian Tissue Cryopreservation for A 6-Year-Old Girl with Non-Mosaic Turner Syndrome (45, X) in Japan: A Case Report.

Cytogenetic analysis of 3488 patients with recurrent pregnancy loss: An experience of two decades from a tertiary care center in South India.

Development of Neuroblastoma During Growth Hormone Therapy for Short Stature in a Girl With Mosaic Turner Syndrome.

Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience.

Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences.

Current Practices in Fertility-Based Counseling Among Individuals With Turner Syndrome: A Retrospective Study.

Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network.

Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes.

Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, postnatal decrease of the 45,X cell line and a favorable fetal outcome.

Morbidity in Males With 45,X/46,XY Resembles the Morbidity Pattern in Turner Syndrome: A National Population-Based Study.

Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review.

CONCURRENT OCCURRENCE OF NEUROFIBROMATOSIS TYPE 1 AND TURNER SYNDROME: A PEDIATRIC CASE REPORT WITH COMPREHENSIVE LITERATURE REVIEW.

Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Randomized Controlled Trial.

Gene expression analysis of ovarian follicles and stromal cells in girls with Turner syndrome.

Turner syndrome: fertility, familial clustering, and cancer risk.

[Reflections on the clinical diagnosis and management of Turner syndrome].

Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.

The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome.

A Case of Idiopathic Central Diabetes Insipidus and a Mosaic Form of Turner Syndrome.

[Prenatal diagnosis analysis of three cases of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes].

The Perrault Syndrome Mystery: A Case Report on Its Diagnosis in a 26-Year-Old Female.

Uncommon presentation: monozygotic twins with Turner syndrome.

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report.

Different Aortic Root Diameters on Echocardiography and MRI During Pregnancy in Mosaic Turner Syndrome.

Author's Reply to Different Aortic Root Diameters on Echocardiography and MRI During Pregnancy in Mosaic Turner Syndrome.

Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation.

Prenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report.

A Case of Chimeric Turner Syndrome with Normal Reproductive Function.

Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.

[Clinical characteristics and management status of Turner syndrome in 1 089 children].

Safety and effectiveness of controlled ovarian stimulation and oocyte retrieval during prepubertal and peripubertal period.

Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas.

A mathematical framework for genetic relatedness analysis involving X chromosome aneuploidies.

Anti-N-methyl-D-aspartate Receptor Encephalitis in Turner Syndrome with 45,X/46,X,idic(X)(p11.4) Mosaics.

The Discovery of Common Chromosome Aneuploidies with Medical Implications Through Innovative Analysis of Ancient DNA (aDNA).

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.

Bone mineral density: Comparison between women under hormone replacement therapy with Turner syndrome or idiopathic premature ovarian insufficiency.

Monocentric Study on the Performance of Noninvasive Prenatal Testing on Cell-Free DNA for the Detection of Monosomy X.

[Genetic analysis of a child with mos 46,X,psu idic(X)(q21.3)[40]/45,X[3]].

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome.

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.

Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns.

Prenatal diagnosis and genetic counseling of 45,X/46,XX low-level mosaicism with a favorable outcome.

Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report.

SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.

Surprising Course of a Pregnant Patient With Mosaic Turner Syndrome.

A Diagnosis of Turner Syndrome in the Eighth Decade of Life.

Turner Syndrome: Pitfalls of Transition from Paediatric to Adult Health Care.

Are Young People with Turner Syndrome Who Have Undergone Treatment with Growth and Sex Hormones at Higher Risk of Metabolic Syndrome and Its Complications?

In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series.

Phenotypic variability and management of patients with mosaic monosomy X and Y chromosome material: a case series.

Yolk Sac Tumor of the Ovary in Mosaic 46XX Turner Syndrome.

Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.

[Unexpected spontaneous pregnancy in women with Turner syndrome].

Gonadoblastoma in a patient with 45,X/46XY mosaicism.

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome.

Mosaic Turner Syndrome With Multiple Spontaneous Pregnancies: A Case Report.

Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma.

[Clinical features and Y chromosome abnormalities in children with 45, X/46, XY mosaicism].

Isochromosome Mosaic Turner Syndrome With Epilepsy and Developmental Abnormalities: A Case Report.

A Case Report of Turner Syndrome Diagnosed at Age 61 Years.

Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth.

Detection of chromosomal aneuploidy in ancient genomes.

Oocyte cryopreservation in mosaic Turner syndrome with polycystic ovaries.

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.

Effects of Hormone Replacement Therapy on Bone Mineral Density in Korean Adults With Turner Syndrome.

Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.

Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.

Reproductive health in Turner's syndrome: from puberty to pregnancy.

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.

Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation.

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome.

45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.

[Genetic analysis of a child with mosaicism Turner syndrome].

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.

Turner Syndrome Mosaicism after Diagnosis of Coeliac Disease-A High Index of Clinical Suspicion Required?

Live birth after single euploid frozen embryo transfer in a 39-year-old woman with high-grade mosaic Turner syndrome.

Oocyte cryopreservation with in vitro maturation for fertility preservation in girls at risk for ovarian insufficiency.

Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study.

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues.

Clinical profile and cytogenetic correlations in females with primary amenorrhea.

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).

Frontal lobe epilepsy in a patient with mosaic Turner syndrome.

TurnerFertility trial: fertility preservation in young girls with Turner syndrome by freezing ovarian cortex tissue-a prospective intervention study.

[Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review].

[Application of fluorescence in situ hybridization combined with chromosomal karyotyping analysis in children with disorders of sex development due to sex chromosome abnormalities].

Rare and Atypical Case of Turner Syndrome With Three Cell Lines.

Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report.

AMH and other markers of ovarian function in patients with Turner syndrome - a single center experience of transition from pediatric to gynecological follow up.

Organ Abnormalities Caused by Turner Syndrome.

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.

Predicted health care profile after transition to adult care in Turner syndrome children-experience of single center.

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients.

Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications.

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.

Turner Syndrome with Mosaicism of X Chromosome: A Case Report.

[A case of Turner syndrome associated with schizophrenia].

Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Thyroid autoimmunity and autoimmune thyroid disease in Malaysian girls with Turner syndrome: An understudied population.

Assessment of folliculogenesis in ovarian tissue from young patients with Turner syndrome using a murine xenograft model.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line.

Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study.

The Effect of the Rate of Increase of Estrogen Replacement Therapy on Bone Mineral Density Accrual in Young Patients with Turner Syndrome.

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.

Double Isochromosome X, a Rare Cytogenetic Variant of Turner Syndrome: A Case Report and a Review of the Literature.

Pregnancy after in vitro fertilization in an elderly primigravida with Shereshevsky-Turner Syndrome: A case report.

The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty.

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia- case report and review of literature.

Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: A Case Report.

Prevalence of Sex-Related Chromosomal Abnormalities in a Large Cohort of Spanish Purebred Horses.

Silver-Russell syndrome and Turner syndrome in a girl with short stature treated with growth hormone - case report.

Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study.

Serum LH/FSH ratios in 87 infants with differences of sex development.

Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays.

High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam.

Gonadal Y-chromosome mosaicism with 45, X Turner syndrome complicated with bilateral HCG-secreting gonadoblastoma.

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.

A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney.

Reproductive health in Turner syndrome: A narrative review.

[Human chorionic gonadotropin-secreting gonadoblastomas in a girl of 45, X Turner syndrome: a case report and literature review].

Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.

Different effects of maternal homocysteine concentration, MTHFR and MTRR genetic polymorphisms on the occurrence of fetal aneuploidy.

Monosomy X in isogenic human iPSC-derived trophoblast model impacts expression modules preserved in human placenta.

A Rare Case of Hashimoto's Encephalopathy With Mosaic Turner Syndrome.

Liver Abnormalities in Turner Syndrome: The Importance of Estrogen Replacement.

Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome.

The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients.