Literature DB >> 14762456

Trisomy 14 mosaicism: a case report and review of the literature.

M Fran Lynch1, Caraciolo J Fernandes, Lisa G Shaffer, Lorraine Potocki.   

Abstract

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We describe two previously unreported abnormalities in this condition and delineate physical and psychomotor features and concerns for medical management. Trisomy 14 mosaicism should be suspected in individuals who have the features described herein, thus prompting cytogenetic evaluation of blood, and possibly other tissues for diagnosis.

Entities:  

Mesh:

Year:  2004        PMID: 14762456     DOI: 10.1038/sj.jp.7211048

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  6 in total

1.  A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.

Authors:  Maria Yakoreva; Tiina Kahre; Sander Pajusalu; Piret Ilisson; Olga Žilina; Vallo Tillmann; Tiia Reimand; Katrin Õunap
Journal:  Mol Syndromol       Date:  2018-05-18

2.  Congenital ocular anomaly in an infant with trisomy 14 mosaicism.

Authors:  Jun Ho Choi; Youn Joo Choi; So Young Kim
Journal:  Korean J Ophthalmol       Date:  2012-07-24

3.  Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Authors:  Consuelo Salas-Labadía; Esther Lieberman; Roberto Cruz-Alcívar; Pilar Navarrete-Meneses; Samuel Gómez; Consuelo Cantú-Reyna; Karin Buiting; Carola Durán-McKinster; Patricia Pérez-Vera
Journal:  Mol Cytogenet       Date:  2014-09-25       Impact factor: 2.009

4.  Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.

Authors:  Shujie Zhang; Haisong Qin; Jin Wang; Luping OuYang; Shiyu Luo; Chunyun Fu; Xin Fan; Jiasun Su; Rongyu Chen; Bobo Xie; Xuyun Hu; Shaoke Chen; Yiping Shen
Journal:  Mol Cytogenet       Date:  2016-08-24       Impact factor: 2.009

5.  Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Authors:  Sarah Okashah; Dhanya Vasudeva; Aya El Jerbi; Houssein Khodjet-El-Khil; Mashael Al-Shafai; Najeeb Syed; Marios Kambouris; Sharda Udassi; Luis R Saraiva; Hesham Al-Saloos; Jai Udassi; Kholoud N Al-Shafai
Journal:  Genes (Basel)       Date:  2022-07-30       Impact factor: 4.141

6.  Complete trisomy 14 mosaicism: first live-born case in Korea.

Authors:  Yun Jung Hur; Taegyu Hwang
Journal:  Korean J Pediatr       Date:  2012-10-29
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.