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AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

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Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome

Article Title: Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study

Authors: Davis, Nokoff, Furniss, Pyle, Valentine, Fechner, Ikomi, Magnusen, Nahata, Vogiatzi, and Dempsey

Date of Publication: February 1, 2022

“Diabetes and cardiovascular diseases are common among men with Klinefelter syndrome (KS) and contribute to high morbidity and mortality.”

“This large, population-based cohort of youth with KS had a higher odds of most cardiometabolic-related diagnoses than matched controls.”

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2023-01-25T12:41:07-05:00Categories: 47,XXY (Klinefelter)|Tags: , , |

Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor

Article Title: Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor

Authors: Otter, Campforts, Stumpel, Van Amelsvoort, and Drukker

Date of Publication: December 21, 2022

“This study aims to describe the prevalence of psychiatric disorders in adults with TXS in a relatively large and less biased group of participants.”

“Women with TXS are vulnerable to developing psychiatric disorders, and women with both TXS and impaired social functioning are even more vulnerable.”

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2023-01-13T12:21:33-05:00Categories: 47,XXX (trisomy x)|Tags: , , , |

Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

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Early impact of X- and Y-chromosome variations on social communication and social emotional development in 1–2-year-old children

Article Title: Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2-year-old children

Authors: Bouw, Swaab, Tartaglia, Jansen, and Van Rijn

Date of Publication: February 18, 2022

“These findings suggest that SCT [sex chromosome trisomies] impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.”

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2022-12-02T13:45:58-05:00Categories: 47,XXX (trisomy x), 47,XXY (Klinefelter), 47,XYY|Tags: |

Delaying testicular sperm extraction in 47,XXY Klinefelter patients

Article Title: Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive

Authors: Renault, Labrune, D’Estaing, Cuzin, Lapoirie, Benchaib, Lornage, Soignon, De Souza, Dijoud, Fraison, Pral-Chatillon, Bordes, Sanlaville, Schluth-Bolard, Salle, Ecochard, Lejeune, and Plotton

Date of Publication: September 16, 2022

“Should testicular sperm extraction (TESE) in non-mosaic 47,XXY Klinefelter syndrome (KS) patients be performed soon after puberty or could it be delayed until adulthood?”

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2022-11-16T14:45:18-05:00Categories: 47,XXY (Klinefelter)|Tags: , |

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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Klinefelter Syndrome: What should we tell prospective parents?

Article Title: Klinefelter Syndrome: What should we tell prospective parents?

Authors: White, Zacharin, Fawcett, and McGillivray

Date of Publication: October 12, 2022

“With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.”

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2022-10-25T13:09:07-04:00Categories: 47,XXY (Klinefelter)|Tags: , |

Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study

Article Title: Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Authors: Howell, Davis, Thompson, Brown, Tanda, Kowal, Alston, Ross, and Tartaglia

Date of Publication: September 6, 2022

“The majority (57%) of parents with a NIPS result positive for SCA defer diagnostic confirmation until birth; however, diagnostic results can be discordant with NIPS results, which may impact genetic counseling.”

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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.”

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2022-10-19T13:16:14-04:00Categories: 47,XXX (trisomy x), Mosaicism|Tags: , , |

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.”

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2022-10-19T13:09:07-04:00Categories: 47,XYY, Mosaicism|
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