Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype

被引：12

作者：

Sensi, Alberto ^{[1
]}

Prontera, Paolo ^{[1
,2
]}

Buldrin, Barbara ^{[1
]}

Palma, Silvia ^{[3
]}

Aiello, Vincenzo ^{[1
]}

Gruppioni, Rita ^{[1
]}

Calzolari, Elisa ^{[1
]}

Volinia, Stefano ^{[3
]}

Martini, Alessandro ^{[3
]}

机构：

[1] Univ Ferrara, I-44100 Ferrara, Italy

[2] Univ Perugia, I-06100 Perugia, Italy

[3] Univ Ferrara, I-44100 Ferrara, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 01期

关键词：

array-CGH; complex intrachromosomal rearrangement; chromosome; 4; deletion; duplication; 4q-syndrome;

D O I：

10.1002/ajmg.a.32059

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-year-old child who presented a de novo rearrangement of chromosome 4, detected on GTG banding and characterized by array CGH and FISH, as a complex intrachromosomal rearrangement with three deletions: del(q32.1q32.2), del(q33q34.1), del(q35.2), one tandem duplication dup(q34.3q35.1)and short normal regions in between. The study of karyotype-phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q-syndrome and for craniofacial development. (C) 2007 Wiley-Liss, Inc.

引用

页码：110 / 115

页数：6

共 29 条

[1]

Aftimos S, 2001, AM J MED GENET, V98, P273, DOI 10.1002/1096-8628(20010122)98:3<273::AID-AJMG1081>3.0.CO

[2]

2-4

[3] Is the genetic basis of DiGeorge syndrome in HAND? [J].

Baldini, A .

NATURE GENETICS, 1999, 21 (03) :246-247

[4] Further delineation of the Toriello-Carey syndrome: A report of two siblings [J].

Barisic, I ;

Peter, B ;

Mikecin, L .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 116A (02) :188-191

[5] Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand [J].

Bruneau, BG ;

Bao, ZZ ;

Tanaka, M ;

Schott, JJ ;

Izumo, S ;

Cepko, CL ;

Seidman, JG ;

Seidman, CE .

DEVELOPMENTAL BIOLOGY, 2000, 217 (02) :266-277

[6]

Chinen Y, 1999, AM J MED GENET, V87, P262, DOI 10.1002/(SICI)1096-8628(19991126)87:3<262::AID-AJMG13>3.0.CO

[7]

2-3

[8] Reciprocal translocations:: a trap for cytogenetists? [J].

Ciccone, R ;

Giorda, R ;

Gregato, G ;

Guerrini, R ;

Giglio, S ;

Carrozzo, R ;

Bonaglia, M ;

Priolo, E ;

Laganà, C ;

Tenconi, R ;

Rocchi, M ;

Pramparo, T ;

Zuffardi, O ;

Rossi, E .

HUMAN GENETICS, 2005, 117 (06) :571-582

[9] Diagnostic genome profiling in mental retardation [J].

de Vries, BBA ;

Pfundt, R ;

Leisink, M ;

Koolen, DA ;

Vissers, LELM ;

Janssen, IM ;

van Reijmersdal, S ;

Nillesen, WM ;

Huys, EHLPG ;

de Leeuw, N ;

Smeets, D ;

Sistermans, EA ;

Feuth, T ;

van Ravenswaaij-Arts, CMA ;

van Kessel, AG ;

Schoenmakers, EFPM ;

Brunner, HG ;

Veltman, JA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :606-616

[10] Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1 [J].

Gajecka, M ;

Glotzbach, CD ;

Shaffer, LG .

CHROMOSOME RESEARCH, 2006, 14 (03) :277-282

← 1 2 3 →