PATERNAL DUPLICATION OF CHROMOSOME-5Q11.2-5Q14 IN A MALE BORN WITH CRANIOSTENOSIS, EAR TAGS, KIDNEY DYSPLASIA AND SEVERAL OTHER ANOMALIES

被引：17

作者：

BRESLAUSIDERIUS, EJ

WIJNEN, JT

DAUWERSE, JG

DEPATER, JM

BEEMER, FA

KHAN, PM

机构：

[1] MGC,DEPT HUMAN GENET,SYLVIUS LAB,2333 AL LEIDEN,NETHERLANDS

[2] UNIV UTRECHT,CHILDRENS HOSP,UTRECHT,NETHERLANDS

来源：

HUMAN GENETICS | 1993年 / 92卷 / 05期

关键词：

D O I：

10.1007/BF00216455

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the orgin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.

引用

收藏

页码：481 / 485

页数：5

相关论文

共 20 条

[1]

BASSETT AS, 1988, LANCET, V1, P799

[2] CA REPEAT POLYMORPHISM AT THE D5S82 LOCUS, PROXIMAL TO ADENOMATOUS POLYPOSIS-COLI (APC) [J].

BREUKEL, C ;

TOPS, C ;

VANLEEUWEN, C ;

VANDERKLIFT, H ;

NAKAMURA, Y ;

FODDE, R ;

KHAN, PM .

NUCLEIC ACIDS RESEARCH, 1991, 19 (20) :5804-5804

[3] MSPI RFLP AT THE D5S122 LOCUS TIGHTLY LINKED TO APC [J].

BREUKEL, C ;

TOPS, C ;

RAS, E ;

KHAN, PM .

NUCLEIC ACIDS RESEARCH, 1991, 19 (03) :685-685

[4] RAPID DETECTION OF CHROMOSOME-16 INVERSION IN ACUTE NONLYMPHOCYTIC LEUKEMIA, SUBTYPE M4 - REGIONAL LOCALIZATION OF THE BREAKPOINT IN 16P [J].

DAUWERSE, JG ;

KIEVITS, T ;

BEVERSTOCK, GC ;

VANDERKEUR, D ;

SMIT, E ;

WESSELS, HW ;

HAGEMEIJER, A ;

PEARSON, PL ;

VANOMMEN, GJB ;

BREUNING, MH .

CYTOGENETICS AND CELL GENETICS, 1990, 53 (2-3) :126-&

[5] AN ANONYMOUS HUMAN SINGLE COPY GENOMIC CLONE, D5S6 (M4) ON CHROMOSOME-5 IDENTIFIES A 3 ALLELE RFLP [J].

DIETZSCH, E ;

RETIEF, AE ;

LOTZE, MJ ;

WARNICH, L ;

NICHOLSON, DL ;

FOX, MF ;

FRICKE, J ;

DUPLESSIS, L ;

OOSTHUIZEN, CJJ .

NUCLEIC ACIDS RESEARCH, 1986, 14 (04) :1923-1923

[6]

GILGENKRANTZ S, 1981, J MED GENET, V18, P456

[7] DELETION MAPPING OF DNA MARKERS TO A REGION OF CHROMOSOME-5 THAT COSEGREGATES WITH SCHIZOPHRENIA [J].

GILLIAM, TC ;

FREIMER, NB ;

KAUFMANN, CA ;

POWCHIK, PP ;

BASSETT, AS ;

BENGTSSON, U ;

WASMUTH, JJ .

GENOMICS, 1989, 5 (04) :940-944

[8] SYSTEMATIC SCREENING OF YEAST ARTIFICIAL-CHROMOSOME LIBRARIES BY USE OF THE POLYMERASE CHAIN-REACTION [J].

GREEN, ED ;

OLSON, MV .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (03) :1213-1217

[9] ISOLATION OF PROBES DETECTING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS FROM X-CHROMOSOME-SPECIFIC LIBRARIES - POTENTIAL USE FOR DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY [J].

HOFKER, MH ;

WAPENAAR, MC ;

GOOR, N ;

BAKKER, E ;

VANOMMEN, GJB ;

PEARSON, PL .

HUMAN GENETICS, 1985, 70 (02) :148-156

[10] PARTIAL TRISOMY FOR LONG ARMS OF CHROMOSOME NO-5 DUE TO INSERTION AND FURTHER ANEUSOMIE-DE-RECOMBINAISON [J].

JALBERT, P ;

JALBERT, H ;

SELE, B ;

MOURIQUAND, C ;

MALKA, J ;

BOUCHARLAT, J ;

PISON, H .

JOURNAL OF MEDICAL GENETICS, 1975, 12 (04) :418-423