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- Turner syndrome (TS) is a genetic disorder primarily affecting females, usually characterized by a 45,X haplotype, but some cases involve chimerism, where individuals have different genetic compositions.
- A 41-year-old female with no family history of TS presented normal physical traits and intelligence, but had difficulties conceiving, attributed to reduced ovarian function linked to chimeric TS.
- Genetic analysis revealed a mix of chromosomal patterns (45,X/47,XXX/46,XX/48,XXX), suggesting that fertility issues are more likely in cases of chimeric TS, emphasizing the need for early genetic testing for timely fertility interventions.
Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.
Hum Genome Var
August 2024
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue.
View Article and Find Full Text PDF[Report content and prenatal diagnosis of non-invasive prenatal testing for sex chromosome aneuploidy].
Zhonghua Fu Chan Ke Za Zhi
October 2023
Medical Center for Obstetrics and Gynecology, Drum Tower Hospital Affiliated to the Medical School of Nanjing University, Nanjing 210008, China.
To analyze the report content, the methods and results of prenatal diagnosis of high risk of sex chromosome aneuploidy (SCA) in non-invasive prenatal testing (NIPT). A total of 227 single pregnancy pregnant women who received genetic counseling and invasive prenatal diagnosis at Drum Tower Hospital Affiliated to the Medical School of Nanjing University from January 2015 to April 2022 due to the high risk of SCA suggested by NIPT were collected. The methods and results of prenatal diagnosis were retrospectively analyzed, and the results of chromosome karyotype analysis and chromosome microarray analysis (CMA) were compared.
View Article and Find Full Text PDFA rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21.
Mol Genet Genomic Med
August 2020
Department of Laboratory Medicine, Zhongnan Hospital, Wuhan university, Wuhan, Hubei, P. R. China.
Background: Placental mosaicism is one of the major reasons for noninvasive prenatal testing (NIPT) discrepancy. Herein, we discovered a rare case of placenta with complex karyotypes that caused false-positive and false-negative results in noninvasive prenatal testing.
Methods: Next-generation sequencing (NGS) and Quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on the cord blood sample, fetal tissues, and eight placental biopsies.
The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study.
J Gynecol Obstet Hum Reprod
September 2019
Cumhuriyet University, Faculty of Medicine, Department of Medical Genetics, Turkey. Electronic address:
Objective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey.
Materials And Medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study.
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