Results 61 to 70 of about 5,960 (128)

Application of Molecular DNA Markers (STRs) in Molecular Diagnosis of Down Syndrome in Iran [PDF]

Journal of Sciences, Islamic Republic of Iran, 2004
Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the ...
doaj  

Low-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, positive non-invasive prenatal testing for trisomy 14, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 14 at amniocentesis. Case report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age.
Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +7 more
doaj   +1 more source

Chromosomal Abnormalities Associated With Omphalocele

Taiwanese Journal of Obstetrics & Gynecology, 2007
Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele ...
Chih-Ping Chen
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present prenatal diagnosis of mosaic trisomy 2. Materials and Methods: A 29-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening, and the cytogenetic result was 47,XY,+2[8]/46,XY[22 ...
Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang   +8 more
doaj   +1 more source

Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities

Menopause Review
Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy ...
Behnaz Moradi, Ashkan Bahrami, Seyedeh Maryam Vafaei, Sanaz Sharifpour, Fatemeh Shariatinia, Ali Rezvanimehr, Ali Rashidi-Nezhad, Mobina Fathi, Shirin Yaghoobpoor, Hamed Ghorani   +9 more
doaj   +1 more source

Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review

Frontiers in Genetics
Uniparental disomy (UPD) occurs when both homologous chromosomes are inherited from a single parent. To date, the UPD of all autosomes and the X chromosome has been recorded. A few cases of UPD of chromosome 21 have been documented.
Yuying Zhu, Ke Wu, Cuicui Jiang, Qiumin Zhu   +3 more
doaj   +1 more source

Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines

Iranian Journal of Medical Sciences, 2018
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed.
Mirela Mačkić-Đurović, Meliha Stomornjak-Vukadin, Slavka Ibrulj   +2 more
doaj  

Comment on “Maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis”

Taiwanese Journal of Obstetrics & Gynecology, 2022
Rujittika Mungmunpuntipantip, Viroj Wiwanitkit   +1 more
doaj   +1 more source

A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing. [PDF]

Case Rep Genet
Haines KM, Hazard DM, Carstens B, Brzeskiewicz PM, Gilfillan TM, Nijmeh H, Perez-Gill C, Stoecker M, Rajabi F, Haag MM, Wicks SJ.   +10 more
europepmc   +1 more source

Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses. [PDF]

J Clin Med
Lee S, Kim SW, Lee E, Lee S, Han S.
europepmc   +1 more source