Results 11 to 20 of about 7,544 (158)

Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening. [PDF]

Ultrasound Obstet Gynecol
ABSTRACT Objective Prenatal single‐nucleotide polymorphism (SNP)‐based cell‐free DNA (cfDNA) screening can identify genome‐wide paternal uniparental disomy (GW‐UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW‐UPDpat syndrome ...
Benn P, Hashimoto K, Souter V, Dhamankar R, Xu W, Kijacic D.   +5 more
europepmc   +2 more sources

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics. [PDF]

Clin Genet
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Birnbaum R, Slovik M, Zenvirt S, Livyatan I, Altman I, Gershon S, Rips J, Daum H, Rosenbluh C, Elpeleg O, Meiner V, Frumkin A, Mor-Shaked H, Harel T.   +13 more
europepmc   +2 more sources

Widespread triploidy in Western North American aspen (Populus tremuloides). [PDF]

PLoS ONE, 2012
We document high rates of triploidy in aspen (Populus tremuloides) across the western USA (up to 69% of genets), and ask whether the incidence of triploidy across the species range corresponds with latitude, glacial history (as has been documented in ...
Karen E Mock, Colin M Callahan, M Nurul Islam-Faridi, John D Shaw, Hardeep S Rai, Stewart C Sanderson, Carol A Rowe, Ronald J Ryel, Michael D Madritch, Richard S Gardner, Paul G Wolf   +10 more
doaj   +1 more source

Atypical preeclampsia before 20 weeks of gestation with multicystic placenta, hyperreactio luteinalis, and elevated sFlt-1/PlGF ratio as manifestations of fetal triploidy: A case report

Case Reports in Women's Health, 2022
Preeclampsia is one of the most common as well as most severe complications of pregnancy, characterized by new-onset hypertension and proteinuria or other organ dysfunction. It predominantly occurs after 20 weeks of gestation.
Harue Hayashida, Koji Nakamura, Koto Ukon, Kazuaki Sato, Kazuya Mimura, Mamoru Kakuda, Aska Toda, Tatsuya Miyake, Kosuke Hiramatsu, Toshihiro Kimura, Masayuki Endo, Tadashi Kimura   +11 more
doaj   +1 more source

Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotyping

Reproductive Medicine and Biology, 2022
Purpose Since chromosomal abnormalities can be detected in more than half of miscarriages, cytogenetic testing of the product of conception (POC) can provide important information when preparing for a subsequent pregnancy. Conventional karyotyping is the
Takema Kato, Shunsuke Miyai, Hideki Suzuki, Yuuri Murase, Shiyo Ota, Hiroko Yamauchi, Michiko Ammae, Tatsuya Nakano, Yoshiharu Nakaoka, Tomoko Inoue, Yoshiharu Morimoto, Aisaku Fukuda, Takafumi Utsunomiya, Haruki Nishizawa, Hiroki Kurahashi   +14 more
doaj   +1 more source

Hydatidiform Mole—Between Chromosomal Abnormality, Uniparental Disomy and Monogenic Variants: A Narrative Review

Life, 2023
A hydatidiform mole (HM) or molar pregnancy is the most common benign form of gestational trophoblastic disease characterized by a proliferation of the trophoblastic epithelium and villous edema. Hydatidiform moles are classified into two forms: complete
Andreea Florea, Lavinia Caba, Ana-Maria Grigore, Lucian-Mihai Antoci, Mihaela Grigore, Mihaela I. Gramescu, Eusebiu Vlad Gorduza   +6 more
doaj   +1 more source

Digynic triploidy in a fetus presenting with semilobar holoprosencephaly

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present digynic triploidy in a fetus with semilobar holoprosencephaly (HPE). Case report: A 32-year-old, gravid 1, para 0, woman underwent prenatal ultrasound examination at 12 weeks of gestation, and the ultrasound showed relative ...
Tzu-Yun Chuang, Shu-Yuan Chang, Chih-Ping Chen, Ming-Huei Lin, Cheng-Yu Chen, Shin-Wen Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Wayseen Wang   +9 more
doaj   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Molecular and histological characteristics of early triploid and partial molar pregnancies

Polish Journal of Pathology, 2017
Molar pregnancy has the highest incidence of all gestational trophoblastic diseases. This is a heterogeneous group of diseases, composed of precancerous lesions and gestational trophoblastic tumours.
Katerina Kubelka-Sabit, Dzengis Jasar, Vanja Filipovski, Gorgi Bozinovski, Dijana Plaseska-Karanfilska   +4 more
doaj   +1 more source

Repeated Independent Formation of Triploid Lineages Contributes to Clonal Diversity in Heteronotia binoei Parthenogens. [PDF]

Mol Ecol
ABSTRACT Parthenogenesis, or all‐female clonal reproduction, is rare among vertebrates. This is often attributed to the selective disadvantages of assumed reduction of genetic diversity in the absence of sex. However, parthenogenetic vertebrates have highly complex evolutionary histories, with most arising through hybridisation and many being polyploid.
O'Hara KE, Zozaya SM, Hahn EE, Holleley CE, Moritz C.   +4 more
europepmc   +2 more sources