Results 91 to 100 of about 9,097 (228)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT [PDF]

, 2016
__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray ...
Bos, M.J. (Marnix), Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Koningen, M. (Mieke), Looye-Bruinsma, G.A.G. (Gerda), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Wit, M.C. (Merel) de   +11 more
core   +1 more source

Spatial abilities in aging adults with Down syndrome

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION People with Down syndrome (DS) have a higher likelihood of developing Alzheimer's disease (AD). Deficits in spatial abilities could serve as early indicators of AD. We examined age effects on visuospatial construction and visuomotor integration in DS and whether spatial tasks could distinguish various extents of cognitive decline ...
Yingying Yang, Romal Bhullar, Sonia Conde, For the Alzheimer's Biomarker Consortium on Down Syndrome study   +3 more
wiley   +1 more source

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Case Reports in Genetics, 2014
We report a case of a neonate who was shown with routine chromosome analysis on peripheral blood lymphocytes to have full monosomy 21. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional ...
Trent Burgess, Lilian Downie, Mark D. Pertile, David Francis, Melissa Glass, Sara Nouri, Rosalynn Pszczola   +6 more
doaj   +1 more source

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis.
Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source

The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts [PDF]

, 2010
A dança é uma forma ancestral de magia, invenção dos deuses que a ensinaram aos homens, diz-nos a mitologia hindu. Envolvido no mistério e movimento da dança, o dançarino pode encantar; porém, antes de tudo é preciso que encante a si mesmo.
Veronica Novik, Emily B Moulton, Michael E Sisson, Shagun L Shrestha, Khoa D Tran, Harvey J Stern, Brian D Mariani, Wayne S Stanley   +7 more
core   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype

Molecular Genetics and Metabolism Reports
Background: Transient abnormal myelopoiesis (TAM) is a congenital leukemia specific to neonates with Down syndrome (DS) or trisomy 21. However, rare cases of TAM can also occur with acquired trisomy 21 mutations or mosaic trisomy 21, leading to potential
Junpeng Cai, Xiaomin Zhou, Yu Zhou, Guanghuan Pi   +3 more
doaj   +1 more source

Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: This study aims at presenting prenatal diagnosis of mosaic trisomy 2 and reviewing the literature. Materials, Methods, and Results: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of abnormal maternal serum ...
Chih-Ping Chen, Yi-Ning Su, Schu-Rern Chern, Yu-Ting Chen, Peih-Shan Wu, Jun-Wei Su, Chen-Wen Pan, Wayseen Wang   +7 more
doaj   +1 more source

The Perfective Past Tense in Greek Adolescents with Down Syndrome [PDF]

, 2009
This study investigates the ability of a group of eight Greek-speaking adolescents with Down Syndrome (DS) (aged 12.1-18.7) to handle the perfective past tense using an acceptability judgement task.
Clahsen, Harald, Stathopoulou, Nikolitsa
core   +1 more source