Literature DB >> 20093650

Piecing together a picture of trisomy 8 mosaicism syndrome.

Nathan Edward Hale1, James F Keane.   

Abstract

Relatively few cases of trisomy 8 mosaicism syndrome (T8mS) are documented in the medical literature. It is a rare genetic condition characterized by extreme phenotypic variability--ranging from severe congenital malformations to minute dysmorphic changes. The authors describe a case of T8mS in a man aged 33 years who presented with lumbar spine herniated nucleus propulsus. This case features some of the classic characteristics of T8mS and suggests an association between T8mS and herniated disks.

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Year:  2010        PMID: 20093650

Source DB:  PubMed          Journal:  J Am Osteopath Assoc        ISSN: 0098-6151


  4 in total

1.  Ductal paucity and Warkany syndrome in a patient with congenital extrahepatic portocaval shunt.

Authors:  Vikrant Sood; Rajeev Khanna; Seema Alam; Dinesh Rawat; Shorav Bhatnagar; Archana Rastogi
Journal:  World J Hepatol       Date:  2014-05-27

Review 2.  Constitutional and acquired autosomal aneuploidy.

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

3.  Early and Innovative Rehabilitation in Warkany Syndrome 2 Associated with Agenesis of the Corpus Callosum: A Case Report.

Authors:  Carmela Settimo; Lilla Bonanno; Maria Tresoldi; Rosalia Muratore; Francesca Cucinotta; Emanuela Tripodi; Adriana Piccolo; Smeralda Anchesi; Caterina Impallomeni
Journal:  Children (Basel)       Date:  2022-05-14

4.  Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.

Authors:  Josef Davidsson; Srinivas Veerla; Bertil Johansson
Journal:  Epigenetics Chromatin       Date:  2013-07-01       Impact factor: 4.954

  4 in total

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