[PDF] NIH Public Access David S Hong Mira Raman Matthew Marzelli



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47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites



47,XYY syndrome Complications

47,XYY syndrome Other names: • Jacob’s syndrome • XYY karyotype Causes & risk factors 47,XYY syndrome is caused by • An extra copy of the Y • Each cell has a total of 47 chromosomes instead of the usual 46 Most cases of 47,XYY syndrome are not inherited The disorder usually occurs as a random event during



XYY Syndrome - SSBP

47,XYY syndrome is associated to higher risk for seizures, focal epilepsy, and an electroclinical pattern characterized by focal spike and waves (similar to benign focal epilepsy) has been described in 47,XYY boys (Torniero, 2010) Neuroimaging Males with 47,XYY show increased total gray matter (GM) and white matter (WM) volume



Sex Chromosome Problems Discovered Through Prenatal Testing

47,XYY Syndrome You have recently learned that your fetus has 47,XYY syndrome You had probably never heard of this condition before you had prenatal diagnosis This booklet was created to answer some of the many questions you may have What is 47,XYY syndrome? eother sex chromosom imbalances, 47,XYY



NIH Public Access David S Hong Mira Raman Matthew Marzelli

XYY syndrome (47,XYY) is a relatively common sex aneuploidy, occurring in approximately 1 of 1000 live male births (Morris et al , 2008), but remains largely underdiagnosed (Stochholm et al , 2010) Indeed, the condition is not associated with a clearly discernible physical phenotype, although individuals with 47,XYY present with



XYY - Unique

XYY syndrome XYY syndrome Approximately one boy in 1000 has XYY chromosomes In the cells of their body, instead of 46 chromosomes including one X and one Y chromosome, they have one X and two Y chromosomes, making 47 in all The impact of the extra Y chromosome is extremely variable The great majority of boys and men with an extra Y



A patient with 46,XY/47,XYY karyotype and female phenotype: a

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report Zhi-Hui Liu†, Shi-Chao Zhou, Jun-Wen Du, Kun Zhang and Tao Wu*† Abstract Background: 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



RESEARCH Open Access ResearchDiagnosis and mortality in 47

47,XYY in Denmark, referred to here as index-persons As an index-person we accepted variants of 47,XYY including mosaics (46,XY/47,XYY) Due to their more severe phenotype 48,XXYY males (n = 23) and 48,XYYY males (n = 1) were not included as well as 47,XYY males with an autosomal aneuploidy (n = 1), as their sex chro-

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