Works matching Trisomy 13 syndrome

Results: 285

A Rare Case of Early‑diagnosed Trisomy 13 Syndrome with Typical Semilobar Holoprosencephaly, Cyclopia, and Proboscis: A Case Report.

Published in:

Journal of Medical Sciences (1011-4564), 2024, v. 44, n. 3, p. 137, doi. 10.4103/jmedsci.jmedsci_120_23

By:

Tzu-Rong Liu;
Yi-An Kuo;
Chi‑Kang Lin

Publication type:

Article

Reply to the Letter to the Editor "Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates".

Published in:

Neonatology (16617800), 2022, v. 119, n. 1, p. 135, doi. 10.1159/000520243

By:

Suto, Maiko;
Isayama, Tetsuya;
Takehara, Kenji;
Morisaki, Naho

Publication type:

Article

Trisomy 13: Patau's Syndrome (A Case Report from Jammu Region of Jammu & Kashmir).

Published in:

2017

By:

Balwan, Wahied Khawar;
Saba, Neelam;
Gupta, Subhash

Publication type:

Case Study

Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.

Published in:

2022

By:

Takashima, Kohei;
Hitosugi, Masahito

Publication type:

Letter

ETHICS AND LEGAL ASPECT OF TERMINATION OF PREGNANCY WITH TRISOMY 13 (PATAU SYNDROME).

Published in:

Eduvest: Journal Of Universal Studies, 2023, v. 3, n. 3, p. 552, doi. 10.59188/eduvest.v3i3.769

By:

Ratna Dewi, Dian Andriani;
Darus, Febriansyah;
Avianggi, Hayra Diah;
Rusuldi, Gunawan;
Arifin Abidin, Sutan Finekri

Publication type:

Article

Fiberoptik ile Birleştirilmiş Laringoskop ile Zor Pediyatrik Havayolu Yönetimi: Pierre Robin ve Patau (Trizomi 13) Sendromlu İki Olgu Sunumu.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2014, v. 42, n. 6, p. 358, doi. 10.5152/TJAR.2014.30316

By:

Kılıçaslan, Alper;
Erol, Atilla;
Topal, Ahmet;
Et, Tayfun;
Otelcioğlu, Şeref

Publication type:

Article

Temporal Bone Study of Trisomy 13 Syndrome.

Published in:

Laryngoscope, 2008, v. 118, n. 3, p. 506, doi. 10.1097/MLG.0b013e31815b2176

By:

Fukushima, Hisaki;
Schachern, Patricia A.;
Cureoglu, Sebahattin;
Paparella, Michael M.

Publication type:

Article

Rare health conditions 32: psychogenic nonepileptic seizures (PNES); pseudocyesis (false pregnancy); trisomy 13 syndrome; and pseudoxanthoma elasticum (PXE)

Published in:

British Journal of Healthcare Assistants, 2020, v. 14, n. 2, p. 74, doi. 10.12968/bjha.2020.14.2.74

By:

Barber, Chris

Publication type:

Article

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1787, doi. 10.3390/jcm11071787

By:

Buczyńska, Angelika;
Sidorkiewicz, Iwona;
Hameed, Ahsan;
Krętowski, Adam Jacek;
Zbucka-Krętowska, Monika

Publication type:

Article

Cochlear Implantation in a Child with Patau Syndrome.

Published in:

Journal of International Advanced Otology, 2022, v. 18, n. 6, p. 541, doi. 10.5152/iao.2022.20074

By:

Çolpan, Bahar;
Ulusoy, Bülent

Publication type:

Article

Patau and Edwards Syndromes in a University Hospital: beyond palliative care.

Published in:

Revista Paulista de Pediatria, 2024, v. 42, p. 1, doi. 10.1590/1984-0462/2024/42/2023053

By:

Marçola, Ligia;
Zoboli, Ivete;
Verardo Polastrini, Rita Tiziana;
de Macedo Barbosa, Silvia Maria;
Cícero Falcão, Mário;
de Vicenzi Gaiolla, Paula

Publication type:

Article

Holoprosencephaly in Patau Syndrome.

Published in:

Revista Paulista de Pediatria, 2023, v. 41, p. 1, doi. 10.1590/1984-0462/2023/41/2022027

By:

de Souza Schlosser, Amanda;
Coury Costa, Giovani José;
Salmazo da Silva, Henrique;
Menezes de Mello, Juan Luca;
de Oliveira Gomes, Lucy;
Oliveira Onoyama, Marina Michalski;
Coury Costa, Tatiana Martins

Publication type:

Article

Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05843-5

By:

Nord, Petra;
Ebanks, Ashley H.;
Peterson, Petra;
Iwarsson, Erik;
Harting, Matthew T.;
Burgos, Carmen Mesas

Publication type:

Article

First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.

Published in:

2016

By:

Wagner, P.;
Sonek, J.;
Hoopmann, M.;
Abele, H.;
Kagan, K. O.

Publication type:

journal article

Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 46, n. 1, p. 60, doi. 10.1002/uog.14655

By:

Kagan, K. O.;
Sonek, J.;
Berg, X.;
Berg, C.;
Mallmann, M.;
Abele, H.;
Hoopmann, M.;
Geipel, A.

Publication type:

Article

Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation.

Published in:

2009

By:

Kagan KO;
Valencia C;
Livanos P;
Wright D;
Nicolaides KH;
Kagan, K O;
Valencia, C;
Livanos, P;
Wright, D;
Nicolaides, K H

Publication type:

journal article

Akalvarya birlikteliği ile giden Patau sendromu (Trizomi 13): Bir vaka takdimi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2021, v. 64, n. 1/2, p. 13

By:

Elbayiyev, Sarkhan;
Büyükeren, Melek;
Kiper, Pelin Özlem Şimşek;
Yurdakök, Murat

Publication type:

Article

Rare presentation of ectrodactyly in trisomy 13.

Published in:

Journal of Clinical Neonatology, 2020, v. 9, n. 2, p. 143, doi. 10.4103/jcn.JCN_130_16

By:

Al Rawi, Wafaa;
Mustafa, Kamal;
Abuobayda, Ashraf;
Obaid, Laila

Publication type:

Article

Antenatal reflex DNA screening for trisomy 18 and trisomy 13 in addition to Down’s syndrome.

Published in:

Journal of Medical Screening, 2016, v. 23, n. 4, p. 171, doi. 10.1177/0969141315617982

By:

Bestwick, Jonathan P.;
Wald, Nicholas J.

Publication type:

Article

Hallazgos clínicos inusuales en un paciente con síndrome de Patau.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 5, p. 181, doi. 10.35366/120168

By:

Hugo Guapi-Nauñay, Victor;
Alejandro Mejía-Jiménez, Jonathan;
David Porras-Borja, Fabián

Publication type:

Article

Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4804, doi. 10.3390/jcm13164804

By:

Brăila, Anca Daniela;
Damian, Constantin Marian;
Albu, Cristina-Crenguţa;
Botoacă, Oana;
Dȋră, Laurențiu Mihai;
Albu, Ştefan-Dimitrie;
Brăila, Matei Georgian;
Bănățeanu, Andreea-Mariana;
Poalelungi, Cristian-Viorel;
Bogdan-Andreescu, Claudia Florina

Publication type:

Article

A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report.

Published in:

2013

By:

Karabel, M.;
Yolbaş, I.;
Kelekçi, S.;
Şen, V.;
Haspolat, Y. K.;
Timuroğlu, L.

Publication type:

Case Study

HOW TO COMMUNICATE WITH A SPEECH IMPAIRED PERSON? A CASE STUDY OF A SUBJECT WITH MOSAIC PATAU SYNDROME.

Published in:

2014

By:

Rummo, Ingrid

Publication type:

Case Study

Graphical image of Trisomy Ultrascan related Total edge magic labelling.

Published in:

EAI Endorsed Transactions on Pervasive Health & Technology, 2024, v. 10, n. 1, p. 1, doi. 10.4108/eetpht.10.5311

By:

Pradeepa, A.;
Sundaram, O. V. Shanmuga;
Pushpalatha, N.

Publication type:

Article

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.

Published in:

PLoS Computational Biology, 2021, v. 17, n. 12, p. 1, doi. 10.1371/journal.pcbi.1009684

By:

Paluoja, Priit;
Teder, Hindrek;
Ardeshirdavani, Amin;
Bayindir, Baran;
Vermeesch, Joris;
Salumets, Andres;
Krjutškov, Kaarel;
Palta, Priit

Publication type:

Article

Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.

Published in:

Ultrasound in Obstetrics & Gynecology, 2009, v. 33, n. 5, p. 512, doi. 10.1002/uog.6330

By:

Maiz, N.;
Valencia, C.;
Kagan, K. O.;
Wright, D.;
Nicolaides, K. H.

Publication type:

Article

A IMPORTÂNCIA DOS CUIDADOS PALIATIVOS NO ACOMPANHAMENTO DA CRIANÇA COM SÍNDROME DE PATAU: RELATO DE CASO.

Published in:

Revista Movimenta, 2023, v. 16, n. 2, p. 263

By:

Montes Soares Fernandes, Kathlen Terezinha;
Machado e Silva, Victória Christine;
de Souza Leal, Fernanda;
Gonçalves Teixeira, Gustavo;
de Medeiros, Maja;
Moreira Avelar, Marla;
Martins Roberto Formiga, Cibelle Kayenne

Publication type:

Article

Milder and Later Presentation of Trisomy 13: A Case Report and Literature Review.

Published in:

Journal of the Anatomical Society of India, 2022, v. 71, n. 4, p. 321, doi. 10.4103/jasi.jasi_149_21

By:

Rashmi, N;
Kiran, H;
Rajani, H

Publication type:

Article

SONOGRAPHIC FINDING OF HORSESHOE KIDNEY LEADING TO DIAGNOSIS OF TRISOMY 13 IN A 16 WEEKS PRIMIGRAVIDA.

Published in:

Indian Obstetrics & Gynaecology, 2023, v. 13, n. 2, p. 16

By:

Dey, Shankar;
Roy, Prasanna

Publication type:

Article

Sequential integrated antenatal screening for Down’s syndrome, trisomy 18 and trisomy 13.

Published in:

Journal of Medical Screening, 2016, v. 23, n. 3, p. 116, doi. 10.1177/0969141315608895

By:

Bestwick, Jonathan P.;
Wald, Nicholas J.

Publication type:

Article

Antenatal screening for Down’s syndrome, trisomy 18, and trisomy 13: Reporting a single screening result for all three.

Published in:

Journal of Medical Screening, 2015, v. 22, n. 2, p. 100, doi. 10.1177/0969141315575545

By:

Bestwick, Jonathan P;
Wald, Nicholas J

Publication type:

Article

Colon Cancer in an Adult with Trisomy 13.

Published in:

2018

By:

Kim, Samuel;
Collins, Jay

Publication type:

journal article

Everyone has a story to tell: The experiences of grandparents with a grandchild diagnosed with a genetic life-limiting condition.

Published in:

International Journal of Birth & Parent Education, 2015, v. 2, n. 3, p. 16

By:

Brown, Erica

Publication type:

Article

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Published in:

2023

By:

Yang, Xiaomei;
Sun, Shiyu;
Ji, Yizheng;
Xu, Yasong;
Sun, Li;
Wu, Qichang

Publication type:

Case Study

Fetal Megacystis: Associated Structural Abnormalities and Obstetric Outcomes.

Published in:

Fetal & Pediatric Pathology, 2023, v. 42, n. 3, p. 394, doi. 10.1080/15513815.2022.2158052

By:

Sánchez-Prieto, Manuel;
Perdomo, Laura;
Cortés, Berta;
Rodríguez, Ignacio;
Prats, Pilar;
Rodríguez-Melcón, Alberto;
Barri-Soldevila, Pere;
Serra, Bernat;
Albaigés, Gerard

Publication type:

Article

Effectiveness of Fetal Medicine Foundation's Non-Biochemical Risk Calculation Algorithm in Detection of Common Trisomies Screening at 11–13 weeks of Gestation: 12 Years' Experience in Northern Thailand.

Published in:

International Journal of Women's Health, 2025, v. 17, p. 1693, doi. 10.2147/IJWH.S526271

By:

Kunanukulwatana, Chayanid;
Tongprasert, Fuanglada;
Luewan, Suchaya;
Tongsong, Theera

Publication type:

Article

Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in central China.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574775

By:

Huang, Qiuxiang;
Xu, Qiao;
Chen, Meihuan;
Fan, Wenli;
Huang, Hailong

Publication type:

Article

Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Published in:

Pediatric Anesthesia, 2022, v. 32, n. 5, p. 631, doi. 10.1111/pan.14415

By:

Matthews, Leslie J.;
Mpody, Christian;
Nafiu, Olubukola O.;
Tobias, Joseph D.

Publication type:

Article

Identification of Fetuses at Increased Risk of Trisomies in the First Trimester Using Axial Planes.

Published in:

Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 1, doi. 10.1159/000533879

By:

Montaguti, Elisa;
Diglio, Josefina;
Petrachi, Benedetta;
Arosio, Viola;
Fiorentini, Marta;
Cavalera, Marta;
Pellegrino, Anita;
Amodeo, Silvia;
Lenzi, Jacopo;
Pilu, Gianluigi

Publication type:

Article

Systematic Review of Accuracy Differences in NIPT Methods for Common Aneuploidy Screening.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 8, p. 2813, doi. 10.3390/jcm14082813

By:

Marton, Tamas;
Erdélyi, Zsófia R.;
Takai, Minori;
Mészáros, Balázs;
Supák, Dorina;
Ács, Nándor;
Kukor, Zoltán;
Herold, Zoltan;
Hargitai, Beata;
Valent, Sándor

Publication type:

Article

Abortion Rate Following Chorionic Villous Sampling and Amniocentesis in Twin Pregnancies.

Published in:

Journal of Family & Reproductive Health, 2024, v. 18, n. 4, p. 269

By:

Golshahi, Fatemeh;
Rahimi-Sharbaf, Fatemeh;
Shirazi, Mahbobeh;
Saeedi, Sara;
Nejad, Athar Abdolrazagh;
Garfami, Sahar;
Saedi, Nafise;
Golshahi, Jafar;
Amiriarya, Zeynab;
Tavakolikia, Narjes;
Sahebdel, Behrokh

Publication type:

Article

Genetically induced abnormal cranial development in human trisomy 18 with holoprosencephaly: comparisons with the normal tempo of osteogenic-neural development.

Published in:

Journal of Anatomy, 2015, v. 227, n. 1, p. 21, doi. 10.1111/joa.12326

By:

Reid, Shaina N.;
Ziermann, Janine M.;
Gondré‐Lewis, Marjorie C.

Publication type:

Article

Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2736, doi. 10.1002/ajmg.a.63393

By:

Tamaki, Shoko;
Iwatani, Sota;
Hagimoto, Shinji;
Izumi, Ayako;
Ikuta, Toshihiko;
Takeoka, Emiko;
Matsui, Sachiko;
Mimura, Hitomi;
Minamikawa, Shogo;
Nakagishi, Yasuo;
Yoshimoto, Seiji;
Nakao, Hideto

Publication type:

Article

Quantitative and qualitative Ductus Venosus blood flow evaluation in the screening for Trisomy 18 and 13 -- suitability study.

Published in:

Ginekologia Polska, 2020, v. 91, n. 3, p. 144, doi. 10.5603/GP.2020.0031

By:

Czuba, Bartosz;
Nycz-Reska, Malgorzata;
Cnota, Wojciech;
Jagielska, Agnieszka;
Wloch, Agata;
Borowski, Dariusz;
Wegrzyn, Piotr

Publication type:

Article

A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.

Published in:

Biomedicines, 2023, v. 11, n. 6, p. 1756, doi. 10.3390/biomedicines11061756

By:

Tang, Jiajie;
Han, Jin;
Xue, Jiaxin;
Zhen, Li;
Yang, Xin;
Pan, Min;
Hu, Lianting;
Li, Ru;
Jiang, Yuxuan;
Zhang, Yongling;
Jing, Xiangyi;
Li, Fucheng;
Chen, Guilian;
Zhang, Kanghui;
Zhu, Fanfan;
Liao, Can;
Lu, Long

Publication type:

Article

Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?

Published in:

Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102579

By:

García-Jiménez, Rocío;
Valero, Irene;
Corrales-Gutiérrez, Isabel;
Granell, Reyes;
Borrero, Carlota;
Sainz-Bueno, José Antonio

Publication type:

Article

Specificity of splenopancreatic field abnormality in trisomy 13 syndrome: Macroscopic and histological analysis in 21 autopsy cases.

Published in:

Pathology International, 2009, v. 59, n. 3, p. 147, doi. 10.1111/j.1440-1827.2009.02342.x

By:

Gomi, Kiyoshi;
Sato, Yukiko;
Tanaka, Mio;
Ijiri, Rieko;
Kato, Keisuke;
Aoki, Ichiro;
Tanaka, Yukichi

Publication type:

Article

A Rare Case of Neonatal Complicated Appendicitis in a Child with Patau's Syndrome.

Published in:

2014

By:

Pastore, Valentina;
Bartoli, Fabio

Publication type:

Case Study

A rare case of trisomy 13 mosaicism with only findings on first-trimester ultra- sound single umbilical artery and increased nuchal translucency.

Published in:

Hippokratia, 2024, v. 28, n. 1, p. 38

By:

A., Gerede;
M., Zafrakas;
P., Papasozomenou;
S., Papanikolopoulou;
A., Athanasiadis

Publication type:

Article

The Pelger-Huet Anomaly: A New Familial Association with Polydactyly and Trisomy 13 Syndrome.

Published in:

Acta Haematologica, 1983, v. 70, n. 4, p. 275, doi. 10.1159/000206742

By:

Berman, Mikhail;
Fried, Walter;
Knospe, William

Publication type:

Article