Library - Page 5 of 34 - The Association for X and Y Chromosome Variations

Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Article Title: Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Authors: Tang, Lin, Guo, Hou, and Yu

Date of Publication: April 22, 2019

“FISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.”

Rick Frith2022-10-19T13:16:14-04:00Categories: 47,XXX (trisomy x), Mosaicism|Tags: 45X, Fertility, Turner syndrome|

Mosaic double aneuploidy: Down syndrome and XYY

Article Title: Mosaic double aneuploidy: Down syndrome and XYY

Authors: Parihar, Koshy, and Srivastava

Date of Publication: July 2013

“Down syndrome (trisomy 21) is the most common aneuploidy seen in live born infants. Rarely, infants with typical phenotypic features of Down syndrome may have an additional aneuploidy. We report a patient with Down syndrome who had mosaicism for XYY. There is only one other report of such a patient.”

Rick Frith2022-10-19T13:09:07-04:00Categories: 47,XYY, Mosaicism|

Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Article Title: Rare Disorder of Sexual Differentiation with a Mosaic 46,XX/47,XXY in a Klinefelter Syndrome Individual

Authors: Pattamshetty, Mantri, and Mohan

Date of Publication: April 12, 2020

“Early cytogenetic testing is essential to identify these individuals and testosterone replacement therapy and breast reduction for case management are helpful. Assisted reproductive technology (ART) may assist these individuals father children in some cases.”

Rick Frith2022-10-19T13:05:04-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Article Title: Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

Authors: Samplaski, Lo, Grober, Millar, Dimitromanolakis, and Jarvi

Date of Publication: April 2014

“Klinefelter syndrome (KS) is the most common genetic cause of human male infertility. About 80% to 85% of cases are due to the congenital numerical chromosome aberration 47,XXY. Approximately 15% to 20% of KS men are mosaics, usually with two cell lines: 47,XXY/46,XY. The true prevalence of mosaic forms may be underestimated due to different chromosomal mosaicism levels in different tissues. In addition, popular belief holds that men with mosaic KS are more androgenized than their non-mosaic counterparts. These two factors, in addition to others, may result in underdetection of men with mosaic KS.”

Rick Frith2022-10-19T13:00:26-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review

Article Title: Association between domains of quality of life and patients with Klinefelter syndrome: a systematic review

Authors: Mehmet, Gillard, Jayasena, and Llahana

Date of Publication: May 31, 2022

“This is the first evidence synthesis of QoL in men with KS. Current evidence suggests that combined physical and psychological impairments affect men with KS who also experience impairments in relationships and independence in society. Further research is needed to identify factors that influence the QoL in men with KS.”

Rick Frith2022-10-12T12:34:50-04:00Categories: 47,XXY (Klinefelter)|Tags: Quality of life|

Early symptoms of autism spectrum disorder in children with sex chromosome trisomies

Article Title: Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention

Authors: Bouw, Swaab, Tartaglia, Wilson, van der Velde, and van Rijn

Date of Publication: September 15, 2022

“These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.”

Rick Frith2022-09-22T13:46:40-04:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: Autism Spectrum Disorder|

The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study

Article Title: The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study

Authors: Berglund, Stochholm, and Gravholt

Date of Publication: November 30, 2021

“The 47,XXX syndrome is associated with an increased occurrence of a wide variety of diseases. Increased awareness of this may contribute to improve counseling and clinical assessment of these patients.”

Rick Frith2022-09-09T13:50:22-04:00Categories: 47,XXX (trisomy x)|Tags: Comorbidity|

Klinefelter syndrome: going beyond the diagnosis

Article Title: Klinefelter syndrome: going beyond the diagnosis

Authors: Butler, Srirangalingam, Faithfull, Sangster, Senniappan, and Mitchell

Date of Publication: August 10, 2022

“This review presents the contemporary approach to the provision of support for boys and adolescents with Klinefelter syndrome (KS) and their parents by practitioners who have a special interest in their clinical care and research.”

Rick Frith2022-08-25T12:01:43-04:00Categories: 47,XXY (Klinefelter)|

Emotional reactivity and expressivity in young children with sex chromosome trisomies

Article Title: Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data

Authors: Kuiper, Swaab, Tartaglia, Cordeiro, and van Rijn

Date of Publication: July 25, 2022

“Although sex chromosomal trisomies (SCT) in children are highly prevalent and associated with an increased risk for neurodevelopmental difficulties including socio-emotional problems, little is known about underlying mechanisms that could drive this risk. Studying emotional reactivity and expressivity of young children with SCT in early childhood could identify deviations in early emotional development and potentially serve as risk markers to guide clinical care in developing interventions.”

Supporting students with sex chromosome aneuploidies in educational settings

Article Title: Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey

Authors: Thompson, Davis, Janusz, Frith, Pylead, Howell, Boada, Wilson, and Tartaglia

Date of Publication: August 2022

“Many parents reported their children’s educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.”