PMID: 8592336Nov 1, 1995Paper

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2)

Journal of Medical Genetics
M MasunoY Kuroki

Abstract

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

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Citations

Aug 16, 2002·British Journal of Haematology·Yigal Dror, Melvin H Freedman
Apr 16, 1999·Journal of Pediatric Gastroenterology and Nutrition·B S HershkovitsS Freier
Sep 1, 1999·Journal of Pediatric Gastroenterology and Nutrition·M CipolliG Mastella
Feb 13, 2002·Journal of Pediatric Gastroenterology and Nutrition·Luca FilippiFirmino F Rubaltelli
May 3, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Tadashi YamanishiChie Kobayashi
Jun 15, 2006·Cancer Genetics and Cytogenetics·Zaki A Sherif, Mark Danielsen
Mar 31, 2000·American Journal of Human Genetics·H GinzbergJ M Rommens
May 14, 1999·American Journal of Medical Genetics·P SathyaM J Nowaczyk
Jul 18, 2002·Clinical Genetics·B DorayE Flori
Oct 18, 2003·Gastroenterology Clinics of North America·Véronique Morinville, Jean Perrault

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