Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

被引：20
作者：
Benzacken, B
Siffroi, JP
LeBourhis, C
Krabchi, K
Joye, N
Maschino, F
Viguie, F
Soulie, J
Gonzales, M
Migne, G
Bucourt, M
EnchaRazavi, F
Carbillon, L
Taillemite, JL
机构：
[1] HOP TENON,LAB HIST BIOL REPROD & CYTOGENET,F-75020 PARIS,FRANCE
[2] HOP JEAN VERDIER,LAB HISTOL EMBRYOL CYTOGENET & BIOL REPROD,F-93 BONDY,FRANCE
[3] HOP ST ANTOINE,LAB EMBRYOL PATHOL & CYTOGENET,F-75012 PARIS,FRANCE
[4] HOP NOTRE DAME DE BON SECOURS,SERV BIOL,F-75674 PARIS,FRANCE
[5] HOP JEAN VERDIER,SERV ANATOMOPATHOL,F-93 BONDY,FRANCE
[6] HOP HENRI MONDOR,SERV HISTOL EMBRYOL,F-94 CRETEIL,FRANCE
[7] HOP JEAN VERDIER,SERV GYNECOL OBSTET,F-93 BONDY,FRANCE
来源：
JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 11期
关键词：
holoprosencephaly; chromosome; 7q; reciprocal translocation; Sonic Hedgehog gene;
D O I：
10.1136/jmg.34.11.899
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balanced de novo translocation, t(7;13) (q21.2;q33), without any visible loss of the distal part of chromosome 7q. The involvement of new genes, different from the human Sonic Hedgehog gene (hShh) responsible for holoprosencephaly, or a positional effect are discussed.
引用
收藏
页码：899 / 903
页数：5
相关论文
共 24 条
[1]   Good genes in bad neighbourhoods [J].
Bedell, MA ;
Jenkins, NA ;
Copeland, NG .
NATURE GENETICS, 1996, 12 (03) :229-232
[2]   Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly [J].
Belloni, E ;
Muenke, M ;
Roessler, E ;
Traverso, G ;
SiegelBartelt, J ;
Frumkin, A ;
Mitchell, HF ;
DonisKeller, H ;
Helms, C ;
Hing, AV ;
Heng, HHQ ;
Koop, B ;
Martindale, D ;
Rommens, JM ;
Tsui, LC ;
Scherer, SW .
NATURE GENETICS, 1996, 14 (03) :353-356
[3]   TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-7 - 5 NEW CASES [J].
BOGART, MH ;
CUNNIFF, C ;
BRADSHAW, C ;
JONES, KL ;
JONES, OW .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (01) :53-55
[4]  
BURRIG KF, 1989, CLIN GENET, V36, P262
[5]   Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function [J].
Chiang, C ;
Ying, LTT ;
Lee, E ;
Young, KE ;
Corden, JL ;
Westphal, H ;
Beachy, PA .
NATURE, 1996, 383 (6599) :407-413
[6]   PERSPECTIVES ON HOLOPROSENCEPHALY .1. EPIDEMIOLOGY, GENETICS, AND SYNDROMOLOGY [J].
COHEN, MM .
TERATOLOGY, 1989, 40 (03) :211-235
[7]   PERSPECTIVES ON HOLOPROSENCEPHALY .3. SPECTRA, DISTINCTIONS, CONTINUITIES, AND DISCONTINUITIES [J].
COHEN, MM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (02) :271-288
[8]   Perturbation of nuclear architecture by long-distance chromosome interactions [J].
Dernburg, AF ;
Broman, KW ;
Fung, JC ;
Marshall, WF ;
Philips, J ;
Agard, DA ;
Sedat, JW .
CELL, 1996, 85 (05) :745-759
[9]   LONG-RANGE SCLEROTOME INDUCTION BY SONIC HEDGEHOG - DIRECT ROLE OF THE AMINO-TERMINAL CLEAVAGE PRODUCT AND MODULATION BY THE CYCLIC-AMP SIGNALING PATHWAY [J].
FAN, CM ;
PORTER, JA ;
CHIANG, C ;
CHANG, DT ;
BEACHY, PA ;
TESSIERLAVIGNE, M .
CELL, 1995, 81 (03) :457-465
[10]   REPORT OF THE COMMITTEE ON CLINICAL DISORDERS, CHROMOSOME-ABERRATIONS AND UNIPARENTAL DISOMY [J].
FREZAL, J ;
SCHINZEL, A .
CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4) :986-1052
123