DE-NOVO TANDEM DUPLICATION OF CHROMOSOME SEGMENT 22QLL-Q12 - CLINICAL, CYTOGENETIC, AND MOLECULAR CHARACTERIZATION

被引：29

作者：

LINDSAY, EA

SHAFFER, LG

CARROZZO, R

GREENBERG, F

BALDINI, A

机构：

[1] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030

[2] BAYLOR COLL MED,CTR HUMAN GENOME,HOUSTON,TX 77030

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 03期

关键词：

CHROMOSOME; 22; DUPLICATION; CAT-EYE SYNDROME; CONGENITAL HEART DEFECT;

D O I：

10.1002/ajmg.1320560316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the ''cat-eye,'' Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of ''cat-eye'' syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development. (C) 1995 Wiley-Liss, Inc.

引用

页码：296 / 299

页数：4

共 20 条

[1] CHROMOSOMAL ASSIGNMENT OF HUMAN YAC CLONES BY FLUORESCENCE INSITU HYBRIDIZATION - USE OF SINGLE-YEAST-COLONY PCR AND MULTIPLE LABELING [J].

BALDINI, A ;

ROSS, M ;

NIZETIC, D ;

VATCHEVA, R ;

LINDSAY, EA ;

LEHRACH, H ;

SINISCALCO, M .

GENOMICS, 1992, 14 (01) :181-184

[2]

COLLINS JE, 1992, GENOMICS, V14, P1096

[3] DELETIONS AND MICRODELETIONS OF 22Q11.2 IN VELO-CARDIO-FACIAL SYNDROME [J].

DRISCOLL, DA ;

SPINNER, NB ;

BUDARF, ML ;

MCDONALDMCGINN, DM ;

ZACKAI, EH ;

GOLDBERG, RB ;

SHPRINTZEN, RJ ;

SAAL, HM ;

ZONANA, J ;

JONES, MC ;

MASCARELLO, JT ;

EMANUEL, BS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :261-268

[4] THE 11Q-22Q TRANSLOCATION - A EUROPEAN COLLABORATIVE ANALYSIS OF 43 CASES [J].

FRACCARO, M ;

LINDSTEN, J ;

FORD, CE ;

ISELIUS, L ;

ANTONELLI, A ;

AULA, P ;

AURIAS, A ;

BAIN, AD ;

BARTSCHSANDHOFF, M ;

BERNARDI, F ;

BOYD, E ;

BUCHANAN, LF ;

CAMERON, AH ;

DELACHAPELLE, A ;

CIUFFA, G ;

CUOCO, C ;

DUTRILLAUX, B ;

DUTTON, G ;

FERGUSONSMITH, MA ;

FRANCESCONI, D ;

GERAEDTS, JPM ;

GIMELLI, G ;

GUEGUEN, J ;

GARSNER, E ;

HAGEMEIJER, A ;

HANSEN, FJ ;

HOLLINGS, PE ;

HUSTINX, TWJ ;

KAAKINEN, A ;

VANDEKAMP, JJP ;

KOSKULL, HV ;

LEJEUNE, J ;

LINDENBAUM, RH ;

MCCREANOR, HR ;

MIKKELSEN, M ;

MITELMAN, F ;

NICOLETTI, B ;

NILSBY, I ;

NILSSON, A ;

NOEL, B ;

PADOVANI, E ;

PASQUALI, F ;

PATER, JD ;

PEDERSEN, C ;

PETERSEN, F ;

ROBSON, EB ;

ROTMAN, J ;

RYYNANEN, M ;

SACHS, E ;

SALAT, J .

HUMAN GENETICS, 1980, 56 (01) :21-51

[5] TRISOMY IN MAN [J].

HASSOLD, TJ ;

JACOBS, PA .

ANNUAL REVIEW OF GENETICS, 1984, 18 :69-97

[6] THE 11Q-22Q TRANSLOCATION - A COLLABORATIVE STUDY OF 20 NEW CASES AND ANALYSIS OF 110 FAMILIES [J].

ISELIUS, L ;

LINDSTEN, J ;

AURIAS, A ;

FRACCARO, M ;

BASTARD, C ;

BOTTELLI, AM ;

BUI, TH ;

CAUFIN, D ;

DALPRA, L ;

DELENDI, N ;

DUTRILLAUX, B ;

FUKUSHIMA, Y ;

GERAEDTS, JPM ;

DEGROUCHY, J ;

GYFTODIMOU, J ;

HANLEY, AL ;

HANSMANN, I ;

ISHII, T ;

JALBERT, P ;

JINGELESKI, S ;

KAJII, T ;

VONKOSKULL, H ;

NIIKAWA, N ;

NOEL, B ;

PASQUALI, F ;

PROBECK, HD ;

ROBINSON, A ;

RONCARATI, E ;

SACHS, E ;

SCAPPATICCI, S ;

SCHWINGER, E ;

SIMONI, G ;

VEENEMA, H ;

VIGI, V ;

VOLPATO, S ;

WEGNER, RD ;

WELCH, JP ;

WINSOR, EJT ;

ZHANG, S ;

ZUFFARDI, O .

HUMAN GENETICS, 1983, 64 (04) :343-355

[7] TRISOMY-22 - NO LONGER AN ENIGMA [J].

KUKOLICH, MK ;

KULHARYA, A ;

JALAL, SM ;

DRUMMONDBORG, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :541-544

[8] MOLECULAR CYTOGENETIC CHARACTERIZATION OF THE DIGEORGE-SYNDROME REGION USING FLUORESCENCE IN-SITU HYBRIDIZATION [J].

LINDSAY, EA ;

HALFORD, S ;

WADEY, R ;

SCAMBLER, PJ ;

BALDINI, A .

GENOMICS, 1993, 17 (02) :403-407

[9] A SET OF STS ASSAYS TARGETING THE CHROMOSOME-22 PHYSICAL FRAMEWORK MARKERS [J].

MACCOLLIN, M ;

ROMANO, D ;

BUDARF, M ;

DENNY, C ;

TROFATTER, J ;

MENON, A ;

ROULEAU, G ;

FONTAINE, B ;

EMANUEL, B ;

GUSELLA, J .

GENOMICS, 1993, 15 (03) :680-683

[10] CHARACTERIZATION OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME [J].

MCDERMID, HE ;

DUNCAN, AMV ;

BRASCH, KR ;

HOLDEN, JJA ;

MAGENIS, E ;

SHEEHY, R ;

BURN, J ;

KARDON, N ;

NOEL, B ;

SCHINZEL, A ;

TESHIMA, I ;

WHITE, BN .

SCIENCE, 1986, 232 (4750) :646-648

← 1 2 →