Results 21 to 30 of about 9,097 (228)

Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.
Chih-Ping Chen, Yeou-Lih Wang, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Li-Feng Chen, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang   +9 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

Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome [PDF]

Journal of Medical Genetics, 1974
Trisomy 21 mosaicism was identified by fluorescent quinacrine banding in a phenotypically normal mother, who gave birth to two children with trisomy 21 Down's syndrome.
S, Kaffe, L Y, Hsu, K, Hirschhorn
openaire   +2 more sources

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

Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21 [PDF]

Clinical Chemical Laboratory Medicine, 2007
It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids.We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years.
Casado Moragón, Ángela, López-Fernández, M.E., Ruíz, Rocío   +2 more
openaire   +3 more sources

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

Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis of low-level mosaic trisomy 12. Case Report: A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent ...
Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang   +8 more
doaj   +1 more source

NIPTmer : rapid k-mer-based software package for detection of fetal aneuploidies [PDF]

, 2018
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely ...
Brison, Nathalie, Kaplinski, Lauris, Krjutskov, Kaarel, Kurg, Ants, Palta, Priit, Paluoja, Priit, Peters, Maire, Roost, Anne Mari, Salumets, Andres, Sauk, Martin, Teder, Hindrek, Ustav, Eva-Liina, Vermeesch, Joris R., Zilina, Olga   +13 more
core   +3 more sources