Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

Ross, Judith L.; Roeltgen, David P.; Kushner, Harvey; Zinn, Andrew R.; Reiss, Allan L.; Bardsley, Martha; McCauley, Elizabeth; Tartaglia, Nicole

doi:10.1542/peds.2011-0719

Cited by 165 publications

(168 citation statements)

References 63 publications

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“…However, the cancer incidence and mortalities are not increased [17]. Emerging evidence also suggested higher rates of problem behaviors and hyperactive/impulsive symptoms [18]. Considering important role of pseudo-autosomal region of meiotic sex chromosome pairing and intact pseudo-autosomal regions (PARs) in this case, it is anticipated the meiotic paring would not be compromised [19].…”

Section: Case Reportmentioning

confidence: 83%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

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The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.

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Section: Case Reportmentioning

confidence: 83%

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Kuan

Chen

et al. 2013

J Assist Reprod Genet

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“…However, Turner syndrome and Klinefelter syndrome both have a well-established phenotype that can include physical abnormalities, learning delays, and infertility. [6][7][8][9] Most pregnancies affected by Turner syndrome (>90%) result in spontaneous abortion, but in those that survive, approximately 30% will present with sonographic findings that may include cystic hygroma, thickened nuchal translucency, cardiac defects, and fetal hydrops. 10,11 Because these structural findings may be associated with other genetic abnormalities, the ability to assess the risk for Turner syndrome in pregnancies with these findings may be of clinical value.…”

Section: Introductionmentioning

confidence: 99%

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Hooks¹,

Wolfberg²,

Wang³

et al. 2014

Prenat Diagn

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Objective To assess the performance of a directed chromosomal analysis approach in the prenatal evaluation of fetal sex chromosome aneuploidy.Methods We analyzed 432 frozen maternal plasma samples obtained from patients prior to undergoing fetal diagnostic testing. The cohort included women greater than 18 years of age with a singleton pregnancy of greater than 10 weeks gestation. Samples were analyzed using a chromosome-selective approach (DANSR TM ) and a risk algorithm that incorporates fetal fraction (FORTE TM ).Results The cohort included 34 cases of sex chromosome aneuploidy. The assay correctly identified 26 of 27 (92.6%) cases of Monosomy X, one case of XXX, and all six cases of XXY. There were four false positive cases of sex chromosome aneuploidy among 380 euploid cases for an overall false positive rate of less than 1%.Discussion Analysis of the risk for sex chromosome aneuploidies can be accomplished with a targeted assay with high sensitivity.

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“…The severity of social difficulties is illustrated by an overall level of autism traits that may be up to 2.2 standard deviations (SDs) above mean in a non-clinical group (van Rijn et al 2008). From a dichotomous point of view, a reported 11-27% of the individuals score above clinical threshold for ASD (Bishop et al 2011;Bruining et al 2009;Cordeiro et al 2012;van Rijn et al 2014;Ross et al 2012).…”

mentioning

confidence: 99%

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

Rijn

Stockmann

Buggenhout³

et al. 2014

Genes Brain and Behavior

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Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome. Forty-six children with an extra X chromosome (29 boys with Klinefelter syndrome and 17 girls with Trisomy X), 56 children with autism spectrum disorder (ASD) and 88 non-clinical controls, aged 9-18 years, were included. Similar to children with ASD, children with an extra X chromosome showed significant impairments in social cognition. Regression analyses showed that different cognitive functions predicted social cognitive skills in the extra X and ASD groups. The social cognitive deficits were similar for boys and girls with an extra X chromosome, and not specific for a subgroup with high Autism Diagnostic Interview Revised autism scores. Thus, children with an extra X chromosome show social cognitive deficits, which may contribute to social dysfunction, not only in children showing a developmental pattern that is 'typical' for autism but also in those showing mild or late presenting autism symptoms. Our findings may also help explain variance in type of social deficit: children may show similar social difficulties, but these may arise as a consequence of different underlying information processing deficits.

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Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

Cited by 165 publications

References 63 publications

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

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