A Case of 1p36 Deletion Syndrome Accompanied With Anomalous Arrangement of the Pancreaticobiliary Duct

被引：1

作者：

Kawashima, Hisashi ^{[1
]}

Kinjo, Naoko ^{[1
]}

Uejima, Hajime ^{[1
]}

Ioi, Hiroaki ^{[1
]}

Takekuma, Kouji ^{[1
]}

Nagae, Itsurou ^{[2
]}

Ishii, Kentarou ^{[3
]}

Itoi, Takao ^{[3
]}

Numabe, Hironao ^{[4
]}

机构：

[1] Tokyo Med Univ, Dept Pediat, Tokyo, Japan

[2] Tokyo Med Univ, Dept Pediat Surg, Tokyo, Japan

[3] Tokyo Med Univ, Dept Gastroenterol & Hepatol, Tokyo, Japan

[4] Kyoto Univ, Dept Biomed Eth, Grad Sch Med, Kyoto, Japan

来源：

PANCREAS | 2011年 / 40卷 / 01期

关键词：

11Q23->QTER JACOBSEN-SYNDROME; ANNULAR PANCREAS; MONOSOMY; 1P36; DELINEATION; PHENOTYPE;

D O I：

10.1097/MPA.0b013e3181df1ca9

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：171 / 173

页数：3

共 10 条

[1] Spectrum of epilepsy in terminal 1p36 deletion syndrome [J].

Bahi-Buisson, Nadia ;

Guttierrez-Delicado, Eva ;

Soufflet, Christine ;

Rio, Marlene ;

Daire, Valerie Cormier ;

Lacombe, Didier ;

Heron, Delphine ;

Verloes, Alain ;

Zuberi, Sameer ;

Burglen, Lydie ;

Afenjar, Alexandra ;

Moutard, Marie Laure ;

Edery, Patrick ;

Novelli, Antonio ;

Bernardini, Laura ;

Dulac, Olivier ;

Nabbout, Rima ;

Plouin, Perrine ;

Battaglia, Agatino .

EPILEPSIA, 2008, 49 (03) :509-515

[2] Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation [J].

Battaglia, Agatino ;

Hoyme, H. Eugene ;

Dallapiccola, Bruno ;

Zackai, Elaine ;

Hudgins, Louanne ;

McDonald-McGinn, Donna ;

Bahi-Buisson, Nadia ;

Romano, Corrado ;

Williams, Charles A. ;

Braley, Lisa L. ;

Zuberi, Sameer M. ;

Carey, John C. .

PEDIATRICS, 2008, 121 (02) :404-410

[3]

Fernandez Gonzalez N, 2002, An Esp Pediatr, V57, P249

[4] Monosomy 1p36 deletion syndrome [J].

Gajecka, Marzena ;

Mackay, Katherine L. ;

Shaffer, Lisa G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2007, 145C (04) :346-356

[5] Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome [J].

Heilstedt, HA ;

Ballif, BC ;

Howard, LA ;

Lewis, RA ;

Stal, S ;

Kashork, CD ;

Bacino, CA ;

Shapira, SK ;

Shaffer, LG .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1200-1212

[6] Dislocation theory of vibrational excitations in small-angle grain boundaries [J].

Hovakimian, LB ;

Tanaka, S .

PHYSICAL REVIEW B, 1996, 54 (21) :15125-15135

[7] 1p36 deletion syndrome with intestinal malrotation and annular pancreas [J].

Minami, K ;

Boshi, H ;

Minami, T ;

Tamura, A ;

Yanagawa, T ;

Uemura, S ;

Takifuji, K ;

Kurosawa, K ;

Tsukino, R ;

Izumi, G ;

Yoshikawa, N .

EUROPEAN JOURNAL OF PEDIATRICS, 2005, 164 (03) :193-194

[8]

OBREGON MG, 1992, ANN GENET-PARIS, V35, P208

[9] PARTIAL MONOSOMY OF CHROMOSOME 1P36.3 - CHARACTERIZATION OF THE CRITICAL REGION AND DELINEATION OF A SYNDROME [J].

REISH, O ;

BERRY, SA ;

HIRSCH, B .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 59 (04) :467-475

[10] Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome [J].

Shapria, SK ;

McCaskill, C ;

Northrup, H ;

Spikes, AS ;

Elder, FFB ;

Sutton, VR ;

Korenberg, JR ;

Greenberg, F ;

Shaffer, LG .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (03) :642-650

← 1 →