Literature DB >> 9237504

Three cases of trisomy 13 mosaicism and a review of the literature.

M Delatycki1, R J Gardner.   

Abstract

We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.

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Year:  1997        PMID： 9237504     DOI： 10.1111/j.1399-0004.1997.tb02499.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

Review 1.  Constitutional and acquired autosomal aneuploidy.

Authors:  Colleen Jackson-Cook
Journal:  Clin Lab Med       Date:  2011-12       Impact factor: 1.935

2.  Mosaic trisomy 13 and a sacral appendage.

Authors:  Harry Pachajoa; Luis Enrique Meza Escobar
Journal:  BMJ Case Rep       Date:  2013-07-31

3.  Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.

Authors:  Jutta Jenderny; Winfried Schmidt; Oliver Bartsch
Journal:  Eur J Pediatr       Date:  2009-12-03       Impact factor: 3.183

4.  Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

Authors:  Fulesh Kunwar; Vidhi Pandya; Sonal R Bakshi
Journal:  J Clin Diagn Res       Date:  2016-03-01

5.  A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:  Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; Nicolette S den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia A L Ruivenkamp
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246

Review 6.  Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature.

Authors:  Hao-Wei Tang; Su-Fen Liao; Jyun-Sian Li
Journal:  Eur J Pediatr       Date:  2013-05-12       Impact factor: 3.183

7.  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

8.  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
  8 in total

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