Results 71 to 80 of about 5,849,237 (150)

Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review [PDF]

, 2016
ObjectiveWe present prenatal diagnosis and molecular genetic analysis of mosaic trisomy 17 and a review of the literature of mosaic trisomy 17 at amniocentesis.Materials and MethodsA 42-year-old woman underwent amniocentesis at 17 weeks of gestation ...
Chern, Schu-Rern, Peih-Shan Wu, Chen, Shin-Wen, Yen-Ni Chen, Wang, Wayseen, Schu-Rern Chern, Dai-Dyi Town, Yang, Chien-Wen, Chen, Chih-Ping, Liang-Kai Wang, Chen, Yen-Ni, Chen-Wen Pan, Wang, Liang-Kai, Chien-Wen Yang, Wayseen Wang, Pan, Chen-Wen, Chih-Ping Chen, Town, Dai-Dyi, Wu, Peih-Shan, Shin-Wen Chen   +19 more
core   +1 more source

Prenatal Genomics for Sonographers: Enhancing Confidence, Communication, and Clinical Care

Sonography, Volume 13, Issue 3, September 2026.
To access CPD test for this article click here: https://www.sonographers.org/account/login?returnUrl=/cpds/Prenatal_genomics_for_sonographers. ABSTRACT Genomic medicine is advancing rapidly, bringing significant changes to prenatal care and expanding the role of health professionals.
Deborah Wye, Laura Gerhardy, Noha Elserafy   +2 more
wiley   +1 more source

Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review

, 2012
[[abstract]]"Objective To present prenatal diagnosis of mosaic trisomy 8 and to review the literature. Materials, Methods, and Results A 34-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age.
陳持平;Chen, Chih-Ping
core  

Exploring Parents' Values in Healthcare Decision‐Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 9, Page 913-922, September 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value‐laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to ...
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Persistence of a Monosomic Cell Line in a Fetus with Mosaic Trisomy 8

, 2011
We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound scan performed at 15(+6) weeks revealed bilateral cleft lip and palate, flat facial profile ...
P. Bonasoni, MAGRINI, ELISABETTA, Maria Paola Bonasoni, POMPILII, EVA, Daniela Turchetti, Maria Carla Pittalis, Gianluigi Pilu, SANTINI, DONATELLA, Eva Pompilii, SEGATA, MARIA, PESSION, ANNALISA, Maria Segata, Annalisa Pession, SERI, MARCO, Marco Seri, Elisabetta Magrini, PILU, GIANLUIGI, M. C. Pittalis, Donatella Santini, TURCHETTI, DANIELA   +19 more
core   +1 more source

Cytogenetic analysis of 1284 cases of Down syndrome [PDF]

Journal of Kerman University of Medical Sciences, 1997
Among 17786 karyotyres performed in our center,during 18 years (1357-1375),1300(7.3%) cases of chromosome 21 aberration,including 1284(98.77%) of Down syndrome have been detected.1191 of cases (92.76%) born free trisomy 21:61 cases (4.75%) revealed ...
M.H Kariminejhad, R Kariminejhad, F Azimi, N Nabavi nia, K Alavi, M.T Takyar, Y Shafeghati   +6 more
doaj  

Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome

Molecular Cytogenetics
Trisomy 14 mosaicism is a rare chromosomal disorder caused by the presence of an extra chromosome 14 in a subset of cells. Its true prevalence is unclear due to frequent early pregnancy loss.
Romain Martineau, Florent Fuchs, Audrey Lamouroux, Benjamin Ganne, Constance Wells   +4 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

Mosaic fertilizer Ona prairie dog wetland assessment: Photo document March 2014

, 2019
Mosaic Fertilizer Ona Prairie Dog Wetland Assessment Photo Document March 2014 PD5-TP11 n01thwest comer view to the west- 100% inundated, depth average 3 Yi - 4 Yi feet in some spots PD5-TP6 southeast comer view to the west P:\0003MOS\023-0na Prairie Dog
Mosaic Fertilizer, LLC;
core  

The Achilles Mosaic of Prusias ad Hypium

, 2018
Akhilleus Mozaiği, 1950’li yıllarda Prusias ad Hypium kentinin güney tarafındaki bir tarlada tesadüfen bulunmuştur ve kentteki bir Roma villasının zemininde yer almış olan bir taban mozaiğidir.
S. Sezin SEZER, Sezer, S. Sezgin
core   +1 more source