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AXYS - The Association for X&Y Chromosome Variations

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Helpline: 1‑267‑338‑4262 | info@genetic.org

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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: |

Memorials

Memorials

Many generous families have requested donations to AXYS to honor their dearly departed loved. We are very grateful.

Michael Glissman, son of Gary and Paula Glissman

2024-01-02T16:59:10-05:00

ACRC Clinic Visit Stipend

ACRC - AXYS Clinic and Research Consortium

ACRC Clinic Visit Stipend

AXYS is thrilled to offer a $750 stipend to help families with the costs to their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. Each year, our goal is to award stipends to 10 people with each condition: XXY, XYY, Trisomy X, or XXXY. Those with XXYY, please visit our page for the stipend offered by the XXYY Project.

Notes:

  • This stipend is for those with confirmed X or Y variations. It is not for doctor visits to confirm a prenatal screening test.
  • It is not to be used for visits with the purpose of being in a research study, as most studies offer their own travel reimbursements.
  • We encourage all who visit ACRC clinics to join the GALAXY Registry.
  • Please also use this travel resource: Angel Flight NE, a 501(c)3 nonprofit organization that coordinates free air and ground transportation for medically stable patients seeking medical care for healthcare conditions require them to travel hundreds if not thousands of miles for the specialized care they need. The organization’s partners with volunteer pilots and commercial aviation partners who fly medically stable children and adults for free. Angel Flight NE (AFNE) has been providing services for 27 years assisting more than 108,000 patients who have flown over 15 million miles to 750+ medical facilities throughout the United States. AFNE’s mission/flight coordinators, who are available 24×7, use web-based system to schedule flight made possible by 400+ volunteer pilots or commercial airline partners. These flights are completely FREE of charge to the patient & family for as long & as often as they need to fly.

We ask that you:
1. Complete this application form. You will be notified that we have received your application.
2. After your visit, you will need to complete the reimbursement form and submit clinic-visit-related travel receipts. You will also need to provide a note from the clinic confirming your visit so our accountants are assured that this money was indeed used by someone with an X or Y variation to visit an ACRC clinic. You can be reimbursed for receipt-supported expenses up to $500.

Clinic Visit Stipend Application Form

ACRC - AXYS Clinic and Research Consortium

ACRC Clinic Visit Stipend

AXYS is thrilled to offer a $500 stipend to help families with the costs to their visit to an ACRC (AXYS Clinical and Research Consortium) clinic. In 2023 our goal is to award stipends to 10 people with each condition: XXY, XYY, Trisomy X, or XXXY. Those with XXYY visit our page for the stipend offered by the XXYY Project.

Notes:

  • This stipend is for those with confirmed X or Y variations. It is not for doctor visits to confirm a prenatal screening test.
  • It is not to be used for visits with the purpose of being in a research study, as most studies offer their own travel reimbursements.
  • We encourage all who visit ACRC clinics to join the GALAXY Registry.

We ask that you:
1. Complete this application form. You will be notified that we have received your application.
3. After your visit, you will need to complete the reimbursement form and submit clinic visit related travel and other receipts (doctor bills) so our accountants are assured that this money was indeed used by someone with an X or Y variation to visit an ACRC clinic. You can be reimbursed for receipt-supported expenses up to $500.

Clinic Visit Stipend Application Form

2025-09-19T14:32:15-04:00

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: , , |
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