B-Acute Lymphoblastic Leukemia and Cystinuria in a Patient With Duplication 22q11.21 Detected by Chromosomal Microarray Analysis

被引：7

作者：

Chang, Vivian Y. ^{[1
]}

Quintero-Rivera, Fabiola

Baldwin, Erin E. ^{[2
]}

Woo, Kathy ^{[1
]}

Martinez-Agosto, Julian A. ^{[3
]}

Fu, Cecilia ^{[1
]}

Gomperts, Brigitte N. ^{[1
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol Oncol, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Div Med Genet, Los Angeles, CA 90095 USA

来源：

PEDIATRIC BLOOD & CANCER | 2011年 / 56卷 / 03期

关键词：

22q11.21 duplication syndrome; acute lymphoblastic leukemia; cystinuria; microarray chromosome analysis; CHILDREN; DELETION; MICRODUPLICATION; PANCREATITIS; EXPRESSION; DIGEORGE; SEQUENCE; FEATURES; GENES;

D O I：

10.1002/pbc.22909

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Duplication 22q11.2 syndrome is the result of a microduplication of the same chromosomal region that is deleted in DiGeorge and Velocardiofacial syndromes. We describe a patient with dysmorphic features who was diagnosed with pre-B acute lymphoblastic leukemia, and developed cystinuria and pancreatitis during treatment. Duplication 22q11.2 has not been previously described in association with hematologic abnormalities. Chromosomal microarray technology was used to diagnose duplication 22q11.2 syndrome. In this era of advanced genomics, this technology has become an important method for helping to determine the molecular basis of diseases, best treatments and ultimately patient outcomes. Pediatr Blood Cancer 2011;56:470-473. (C) 2010 Wiley-Liss, Inc.

引用

页码：470 / 473

页数：4

共 21 条

[1] 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features [J].

Alberti, A. ;

Romano, C. ;

Falco, M. ;

Cali, F. ;

Schinocca, P. ;

Galesi, O. ;

Spalletta, A. ;

Di Benedetto, D. ;

Fichera, M. .

CLINICAL GENETICS, 2007, 71 (02) :177-182

[2] Cystinuria in children:: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes [J].

Botzenhart, E ;

Vester, U ;

Schmidt, C ;

Hesse, A ;

Halber, M ;

Wagner, C ;

Lang, F ;

Hoyer, P ;

Zerres, K ;

Eggermann, T .

KIDNEY INTERNATIONAL, 2002, 62 (04) :1136-1142

[3] A common molecular basis for rearrangement disorders on chromosome 22q11 [J].

Edelmann, L ;

Pandita, RK ;

Spiteri, E ;

Funke, B ;

Goldberg, R ;

Palanisamy, N ;

Chaganti, RSK ;

Magenis, E ;

Shprintzen, RJ ;

Morrow, BE .

HUMAN MOLECULAR GENETICS, 1999, 8 (07) :1157-1167

[4] Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines [J].

Gopal, Elangovan ;

Miyauchi, Seiji ;

Martin, Pamela M. ;

Ananth, Sudha ;

Srinivas, Sonne R. ;

Smith, Sylvia B. ;

Prasad, Puttur D. ;

Ganapathy, Vadivel .

AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, 2007, 292 (01) :G402-G408

[5] TUMOR LYSIS SYNDROME - PATHOGENESIS AND MANAGEMENT [J].

JONES, DP ;

MAHMOUD, H ;

CHESNEY, RW .

PEDIATRIC NEPHROLOGY, 1995, 9 (02) :206-212

[6] Renal malformations in deletion 22q11.2 patients [J].

Kujat, Annegret ;

Schutz, Marc D. ;

Strenge, Sibylle ;

Froster, Ursula G. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (14) :1601-1602

[7]

Levy A, 1997, AM J MED GENET, V69, P356, DOI 10.1002/(SICI)1096-8628(19970414)69:4<356::AID-AJMG4>3.0.CO

[8]

2-J

[9] Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine [J].

Li, Marilyn M. ;

Andersson, Hans C. .

JOURNAL OF PEDIATRICS, 2009, 155 (03) :311-317

[10] Multi-system disorder syndromes associated with cystinuria type I [J].

Martens, Kevin ;

Jaeken, Jaak ;

Matthijs, Gert ;

Creemers, John W. M. .

CURRENT MOLECULAR MEDICINE, 2008, 8 (06) :544-550

← 1 2 3 →