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European Journal of Pediatrics
Published in: European Journal of Pediatrics 3/2005

01-03-2005 | Correspondence

1p36 deletion syndrome with intestinal malrotation and annular pancreas

Authors: Koichi Minami, Haruna Boshi, Takaomi Minami, Akira Tamura, Toshihiko Yanagawa, Shigeru Uemura, Katsunari Takifuji, Kenji Kurosawa, Ryuichi Tsukino, Genkichi Izumi, Norishige Yoshikawa

Published in: European Journal of Pediatrics | Issue 3/2005

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Excerpt

Sir: Chromosome 1p36 deletion syndrome is a common, recently recognised chromosome deletion syndrome, characterised by moderate to severe psychomotor retardation, seizures, growth delay and craniofacial dysmorphism [1,4]. We report the first case of 1p36 deletion syndrome with intestinal malrotation and annular pancreas. …
Literature
1.
Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG (2003) Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 72: 1200–1212CrossRefPubMed
2.
Lecco TM (1910) Zür morphologie des Pankreas annulare. Sitzungsb Akad Wissensch 119: 391–406
3.
Ravitch MM, Woods AC Jr (1950) Annular pancreas. Ann Surg 132: 1116–1127PubMed
4.
Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG (1997) Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61: 642–650PubMed
Metadata
Title
1p36 deletion syndrome with intestinal malrotation and annular pancreas
Authors
Koichi Minami
Haruna Boshi
Takaomi Minami
Akira Tamura
Toshihiko Yanagawa
Shigeru Uemura
Katsunari Takifuji
Kenji Kurosawa
Ryuichi Tsukino
Genkichi Izumi
Norishige Yoshikawa
Publication date
01-03-2005
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 3/2005
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-004-1581-z

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