Memorials
Memorials
Many generous families have requested donations to AXYS to honor their dearly departed loved. We are very grateful.
ACRC Clinic Travel Expense Stipend Reimbursement Form
ACRC Clinic Travel Expense Stipend Reimbursement Form
ACRC Clinic Travel Expense Stipend Reimbursement Form
ACRC Clinic Travel Expense Stipend
ACRC Clinic Travel Expense Stipend
AXYS is thrilled to offer a $750 stipend to help families with their travel costs to visit 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.
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 travel-related 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 $750.
Clinic Travel Expense Stipend Application Form
ACRC Clinic Travel Expense Stipend
AXYS is thrilled to offer a $750 stipend to help families with their travel costs to visit 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 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 travel-related 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 $750.
Clinic Travel Expense Stipend Application Form
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?”
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.
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.”
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.”
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.”
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.”
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.”