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AXYS - The Association for X&Y Chromosome Variations
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Mosaicism

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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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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|

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.

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2022-10-19T13:05:04-04:00Categories: 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.”

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2022-10-19T13:00:26-04:00Categories: 47,XXY (Klinefelter), Mosaicism|

The Story of Rapha, a Boy with 48,XXXY/49,XXXXY

2022-10-19T12:59:56-04:00Categories: 48,XXXY, Mosaicism, Other Variations|Tags: |
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