Results 41 to 50 of about 7,985 (170)

Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis

Taiwanese Journal of Obstetrics and Gynecology, 2011
Chi-Hsin Chiang, Chen-Chi Lee, Wen-Lin Chen   +2 more
exaly   +4 more sources

Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 44, Issue 13, Page 1671-1674, December 2024.
Roggia C, Ballin N, Faust U, Kagan KO, Dufke A.   +4 more
europepmc   +2 more sources

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]

Prenat Diagn
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Casteleyn T, Vogt M, Weichert A, Zimmer B, Lala B, Henrich W, Königbauer JT.   +6 more
europepmc   +2 more sources

Contractures of the Hands As a Prenatal Phenotype of CACNA1A-Related Disorder. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 45, Issue 8, Page 1063-1065, July 2025.
Menzies L, Gibbs A, Ashraf T, Beesley C, Roberts R, Chandler NJ.   +5 more
europepmc   +2 more sources

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy (UPD) 18 in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chien-Ling Chiu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source

Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype

Prenatal Diagnosis, Volume 43, Issue 13, Page 1666-1670, December 2023., 2023
Abstract Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra‐uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS).
Nicolas Bourgon, Ruiqian Chen, Gilles Grangé, Sarah Grotto, Clémence Molac, Laurence Loeuillet, Tania Attié‐Bitach   +6 more
wiley   +1 more source

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

Prenatal Diagnosis, Volume 43, Issue 2, Page 192-206, February 2023., 2023
Abstract Objective We aimed to investigate how the presence of fetal anomalies and different X chromosome variants influences Cell‐free DNA (cfDNA) screening results for monosomy X. Methods From a multicenter retrospective survey on 673 pregnancies with prenatally suspected or confirmed Turner syndrome, we analyzed the subgroup for which prenatal cfDNA
Ivonne Bedei, Tascha Gehrke, Karl‐Philipp Gloning, Matthias Meyer‐Wittkopf, Daria Willner, Martin Krapp, Alexander Scharf, Jan Degenhardt, Kai‐Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai M. Jahns, Annegret Geipel, Jan‐Erik Baumüller, Lucas Wilhelm, Ingo Gottschalk, Andreas Schröer, Alexander Graf, Aline Wolter, Johanna Schenk, Axel Weber, Ignatia B. Van den Veyver, Roland Axt‐Fliedner   +22 more
wiley   +1 more source

Low-level mosaic trisomy 20 without uniparental disomy 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal progressive decrease of the aneuploid cell line

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 20 without uniparental disomy (UPD) 20 at amniocentesis in a pregnancy associated with a favorable outcome, cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes and perinatal ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chen-Chi Lee, Wayseen Wang   +6 more
doaj   +1 more source

Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature

Journal of Clinical Laboratory Analysis, Volume 36, Issue 8, August 2022., 2022
QF‐PCR can detect deletion and mosaicism of chromosomes 13, 18, 21, X, and Y, which could suggest the presence of copy number variants (CNVs). The marker locations of short tandem repeat (STR) markers on chromosomes 3, 13, 18, 21, X, and Y. Here, we demonstrated that case 2 involved both mosaicism and a deletion.
Chenxia Xu, Jianming Peng, Yanfang Zhang, Shaoxia Liang, Degang Wang   +4 more
wiley   +1 more source

Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1

American Journal of Medical Genetics Part A, Volume 188, Issue 7, Page 2217-2225, July 2022., 2022
Abstract Kabuki syndrome is a Mendelian disorder of the epigenetic machinery characterized by typical dysmorphic features, intellectual disability, and postnatal growth deficiency. Pathogenic variants in the genes encoding the chromatin modifiers KMT2D and KDM6A are responsible for Kabuki syndrome 1 (KS1) and Kabuki syndrome 2 (KS2), respectively.
Carolina Montano, Jacquelyn F. Britton, Jacqueline R. Harris, Jennifer Kerkhof, Benjamin T. Barnes, Jennifer A. Lee, Bekim Sadikovic, Nara Sobreira, Jill A. Fahrner   +8 more
wiley   +1 more source