Literature DB >> 23220825

Longevity and Patau syndrome: what determines survival?

Sherina Peroos1, Elizabeth Forsythe, Jennifer Harriet Pugh, Peter Arthur-Farraj, Deborah Hodes.   

Abstract

The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7-10 days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity.

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Year:  2012        PMID： 23220825      PMCID： PMC4543265          DOI： 10.1136/bcr-06-2011-4381

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  18 in total

1.  Long-term survival and late onset seizures in an adolescent with trisomy 13.

Authors:  Francois Dominique Jacob; Vijay Ramaswamy; Hanna Kolski
Journal:  Can J Neurol Sci       Date:  2010-09       Impact factor: 2.104

2.  Population-based analyses of mortality in trisomy 13 and trisomy 18.

Authors:  Sonja A Rasmussen; Lee-Yang C Wong; Quanhe Yang; Kristin M May; J M Friedman
Journal:  Pediatrics       Date:  2003-04       Impact factor: 7.124

3.  Ectopia cordis, midline defects and chromosome abnormalities: an epidemiologic perspective.

Authors:  M J Khoury; J F Cordero; S Rasmussen
Journal:  Am J Med Genet       Date:  1988-07

4.  Trisomy 13 and extended survival.

Authors:  J M Cowen; S Walker; F Harris
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

5.  Trisomy 13 (D1) syndrome: studies on parental age, sex ratio, and survival.

Authors:  R E Magenis; F Hecht; S Milham
Journal:  J Pediatr       Date:  1968-08       Impact factor: 4.406

6.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

7.  [Long-term study (7 years and 8 months) of a case of trisomy 13 with long survival].

Authors:  T de Toni; M T Duillo; V Cafiero; G Cavaliere; F Lazzaroni Fossati
Journal:  Minerva Pediatr       Date:  1983-10-15       Impact factor: 1.312

8.  Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis.

Authors:  E B Hook
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

9.  Long survival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old.

Authors:  R Redheendran; R L Neu; R M Bannerman
Journal:  Am J Med Genet       Date:  1981

10.  Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.

Authors:  Hui-Fang Hsu; Jia-Woei Hou
Journal:  Am J Med Genet A       Date:  2007-08-01       Impact factor: 2.802
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  9 in total

1.  Neuroradiological findings of trisomy 13 in a rare long-term survivor.

Authors:  Ryan D Goff; Bruno P Soares
Journal:  Neuroradiol J       Date:  2017-02-14

2.  Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18.

Authors:  K Acharya; S Leuthner; R Clark; T H Nghiem-Rao; A Spitzer; J Lagatta
Journal:  J Perinatol       Date:  2017-01-12       Impact factor: 2.521

3.  Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Authors:  Robert E Meyer; Gang Liu; Suzanne M Gilboa; Mary K Ethen; Arthur S Aylsworth; Cynthia M Powell; Timothy J Flood; Cara T Mai; Ying Wang; Mark A Canfield
Journal:  Am J Med Genet A       Date:  2015-12-10       Impact factor: 2.802

4.  Tale of two rare diseases.

Authors:  Ravindra Shukla; Asish Kumar Basu; Biplab Mandal; Pradip Mukhopadhyay; Animesh Maity; Anirban Sinha
Journal:  Indian J Endocrinol Metab       Date:  2013-10

5.  Severe head dysgenesis resulting from imbalance between anterior and posterior ontogenetic programs.

Authors:  Emmanuelle Grall; Victor Gourain; Asmaa Naïr; Elisabeth Martin; Marie-Christine Birling; Jean-Noël Freund; Isabelle Duluc
Journal:  Cell Death Dis       Date:  2019-10-24       Impact factor: 8.469

Review 6.  The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations.

Authors:  M Felicia Basilicata; Claudia Isabelle Keller Valsecchi
Journal:  PLoS Genet       Date:  2021-12-09       Impact factor: 5.917

7.  A Case of Trisomy 13 Mosaicism With Aortic Root Dilatation.

Authors:  Sarah Wang; Peter Liao; Song-Gui Yang
Journal:  JACC Case Rep       Date:  2022-08-03

Review 8.  Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders.

Authors:  Silvia Natsuko Akutsu; Kazumasa Fujita; Keita Tomioka; Tatsuo Miyamoto; Shinya Matsuura
Journal:  Cells       Date:  2020-01-17       Impact factor: 6.600

9.  Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Authors:  Verónica Fabiola Morán-Barroso; Alicia Cervantes; María Del Refugio Rivera-Vega; Adriana Del Castillo-Moreno; Alejandra Moreno-Chacón; Estefanía Mejía-Cauich; Laura Eréndira Contreras-Ortiz; Fernando Fernández-Ramírez
Journal:  Mol Genet Genomic Med       Date:  2021-07-20       Impact factor: 2.183
  9 in total

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