Results 21 to 30 of about 5,960 (128)

Down Syndrome Mosaism in Samples of Iraqi Patients

مجلة مركز بحوث التقنيات الاحيائية, 2015
The Down syndrome (DS) is the well-known trisomy, which is caused by additional copy of chromosome 21.There are three types of DS. First, fully trisomy (47,XY,+21or 47,XX,+21). Second, translocation DS which result as translocation between chromosome 14
Asma A. Almukhtar Almukhtar , Amal M. Ali Ali, Nahi Y.Yaseen Yaseen , Ahmed Mahdi Mahdi, Noor Thaer Thaer, Fattimah Abd Abd, Shaeima Abdalrahman Abdalrahman, Zainab Saad Saad   +7 more
doaj   +1 more source

Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome.

PLoS ONE, 2021
Down syndrome, which results from a trisomic imbalance for chromosome 21, has been associated with 80+ phenotypic traits. However, the cellular changes that arise in somatic cells due to this aneuploid condition are not fully understood.
Kelly Rafferty, Kellie J Archer, Kristi Turner, Ruth Brown, Colleen Jackson-Cook   +4 more
doaj   +1 more source

CYTOGENETIC STIDY OF 366 AFFECTED CHILDREN WITH DOWN’S SYNDROME IN IRAN [PDF]

Iranian Journal of Public Health, 1996
Down’s syndrome, or 21 trisomy, is the most common autosomal abnormality, with incidence of 1 per 815 live births in Iran. Worldwide reports indicate that about 95% are regular trisomy, or nondisjunction, 1% are mosaic and 4% due to translocation ...
D.D Farhud, H. Sadighi, H. Ameli, A. Bagheri, Z. Hosseini Mazhari   +4 more
doaj   +2 more sources

Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks
Chih-Ping Chen, Tsang-Ming Ko, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source

#46 : Outcomes of Transfer Abnormally Chromosomal Embryos

Fertility & Reproduction, 2023
Background and Aims: In some couples, there was no normal chromosomal embryos after preimplantation genetic testing (PGT) for aneuploidy (PGT-A), for structural chromosomal rearrangements (PGT-SR) or for monogenic (PGT-M).
Truong Thai Ha Nguyen, Bao G Huynh, Duy L Nguyen, Thuy TH Dao, Tuong M Ho   +4 more
doaj   +1 more source

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review. [PDF]

PLoS ONE, 2016
Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin ...
Diane Van Opstal, Malgorzata I Srebniak, Joke Polak, Femke de Vries, Lutgarde C P Govaerts, Marieke Joosten, Attie T J I Go, Maarten F C M Knapen, Cardi van den Berg, Karin E M Diderich, Robert-Jan H Galjaard   +10 more
doaj   +1 more source

The kariotype variability in children with Down syndrome from the Odesa region

Zaporožskij Medicinskij Žurnal, 2021
The kariotype variability in children with Down syndrome from the Odesa region The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype ...
N. V. Kulbachuk, S. V. Matviiuk, S. V. Bilokon, O. L. Sechnyak   +3 more
doaj   +1 more source

Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis low-level mosaic trisomy 17 with maternal uniparental disomy (UPD) 17 at amniocentesis in a pregnancy with a favorable outcome. Materials and methods: A 40-year-old, primigravid woman underwent amniocentesis at 18
Chih-Ping Chen, Shin-Yu Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

Frontiers in Genetics, 2022
The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal testing (NIPT) is an accurate genetic screening test to detect the most common fetal aneuploidies during pregnancy.
Agnese Feresin, Tamara Stampalija, Tamara Stampalija, Stefania Cappellani, Rossana Bussani, Rossana Bussani, Flavio Faletra, Flora Murru, Sheila Ulivi, Sarah Suergiu, Pasquale Savarese, Antonio Pedicini, Margherita Policicchio, Raffaella Ruggiero, Barbara Bosio, Giovanni Savarese, Carmela Ardisia   +16 more
doaj   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source