"XYY syndrome"

Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use. A systematic description of morbidity in 47,XYY syndrome based on nationwide registry data of hospital diagnoses and prescribed medication. All males in Denmark diagnosed with 47,XYY syndrome during 1960-2014 were identified. Each was matched with 100 male controls from the general population. Diagnoses related to hospital encounters (1977-2014) and prescriptions (1996-2014) were analyzed by negative binominal regression and Cox regression, respectively. 47,XYY syndrome was associated with a significantly increased overall incidence of hospital diagnoses (incidence rate ratio = 2.30, confidence interval [CI]: 1.99-2.65), including a significantly increased incidence of diagnoses

Reproductive outcomes of 3 infertile males with XYY syndrome: Retrospective case series and literature review. The aim of this study is to evaluate the pregnancy outcomes of males with a 47, XYY karyotype following assisted reproductive treatment.A retrospective study was performed using data from infertile men with 47, XYY at a center for reproductive medicine in 2004 to 2017. Of the 19,842 and their partners underwent IVF or ICSI treatment with fresh ejaculate samples. The fertilization rate was 52.94% to 83.33%. The embryo cleavage rate was 50% to 90%. One man had abnormal sex hormonal levels and his partner had no clinical pregnancy. The other 2 couples had healthy baby boys.Live spermatozoa can be gathered and fertility is possible for infertile males with 47, XYY syndrome when IVF or ICSI

Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent In situ Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed

Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly

A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive We describe a 24-month-old male patient who presented to our Genetics-Endocrinology Clinic with a history of failure to thrive, short stature and cryptorchidism. Soon after birth he was diagnosed with 47,XYY syndrome, but due unusual facial features had further diagnostic workup which revealed Noonan syndrome (NS) as well. This report illustrates significant phenotypic-cytogenetic variability within the clinical presentation of NS and 47,XYY syndrome, as well as the need to investigate patients for other genetic defects when phenotype does not correlate with genotype. Furthermore, in this case, the cellular pathways attenuating growth via mutation appear to supersede the overdosage

Pregnancy outcomes in prenatally diagnosed 47,XXX and 47,XYY syndromes: a 30-year French, retrospective, multicentre study. Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study

Klinefelter Syndrome and 47,XYY Syndrome in Children With B Cell Acute Lymphoblastic Leukaemia

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered

47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment. To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing

Oral health management of a patient with 47,XYY syndrome The 47,XYY syndrome is an aneuploidy (abnormal number) of sex chromosomes, where a human male receives an extra Y chromosome, making 47 chromosomes instead of the usual 46. Individuals with 47,XYY are usually physically normal and tend to be tall and thin. They are not at increased risk of mental retardation and cardiovascular diseases oral hygiene maintenance. The present article describes the medical and dental history along with the clinical management of oral health issues in an 18-year-old male patient with 47,XYY syndrome having normal physical structure and development.

Rev 2023;44:33–69.2.Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH.Changes in the cohort composition of turner syndrome and severe nondiag-nosis of Klinefelter, 47,XXX and 47, XYY syndrome: a nationwide cohortstudy. Orphanet J Rare Dis 2019;14:16.3.Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910newborn children: results from a 13-year incidence study in Arhus

Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome. To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype. Patients included 26 boys with 47,XYY, 82 boys with KS, and 50

Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. To assess global and regional brain matter variations associated with XYY syndrome by comparison with Klinefelter syndrome and typical development. We used two conceptually distinct voxel-based magnetic resonance imaging methods to examine brain structure in young males with XYY syndrome: (1) volumetric comparison to assess global grey and white matter volumes and (2) support vector machine-based multivariate pattern classification analysis to assess regional neuroanatomy. We assessed verbal, non-verbal, and spatial abilities with the Differential Ability Scales (DAS), and we measured autism diagnostic criteria in eight males with XYY syndrome using the Social Responsiveness Scale and the Autism Diagnostic Interview

A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review. The incidence of 47, XYY syndrome in live-born male infants is 1/1000. Due to its variable clinical symptoms, the diagnosis is easy to miss. The incidence of congenital bilateral absence of the vas deferens (CBAVD) in infertile men is 1-2%. The main cause is the mutation

also existed. Thirteen Robertsonian translocations, 5 deletions, and 3 duplications were detected. Six types of Turner variants, triple X mosaicism, and mosaic Down syndrome were detected in females; Klinefelter variants and mosaic XYY syndrome were detected in males. Marker chromosomes at various mosaic levels and 7 different complex chromosomal rearrangements were also observed. Patients who

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report. 47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. A 15-year-old patient with a female phenotype visited our hospital