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

页码：899 / 903

页数：5

共 50 条

[41] Autism and ultraconserved non-coding sequence on chromosome 7q
Richler, E
Reichert, JG
Buxbaum, JD
McInnes, LA
PSYCHIATRIC GENETICS, 2006, 16 (01) : 19 - 23
[42] DNA amplification on chromosome 7q in squamous cell carcinoma of the tongue
Steinhart, H
Bohlender, J
Iro, H
Jung, V
Constantinidis, J
Gebhart, E
Pahl, S
Urbschat, S
INTERNATIONAL JOURNAL OF ONCOLOGY, 2001, 19 (04) : 851 - 855
[43] Association of schizophrenia with the phenylthiocarbamide taste receptor haplotype on chromosome 7q
Moberg, Paul J.
Li, Mingyao
Kanes, Stephen J.
Gur, Raquel E.
Kamath, Vidyulata
Turetsky, Bruce I.
PSYCHIATRIC GENETICS, 2012, 22 (06) : 286 - 289
[44] Shwachman syndrome with i(7q) and role of chromosome 7 anomalies in myeloproliferative disorders
Maserati, E
Minelli, A
Seghezzi, L
Olivieri, C
Marchi, A
Bozzola, M
Savasta, S
Danesino, C
Scappaticci, S
Pasquali, F
CYTOGENETICS AND CELL GENETICS, 1999, 85 (1-2): : 55 - 55
[45] Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly
Chen, CP
Liu, FF
Jan, SW
Lin, CL
Lan, CC
CLINICAL GENETICS, 1996, 50 (05) : 321 - 326
[46] INTERSTITIAL DELETION OF LONG ARM OF CHROMOSOME NO 7 (7Q) IN AN INFANT WITH MULTIPLE ANOMALIES
HIGGINSON, G
WEAVER, DD
MAGENIS, RE
PRESCOTT, GH
HAAG, C
HEPBURN, DJ
CLINICAL GENETICS, 1976, 10 (05) : 307 - 312
[47] A GENE RESPONSIBLE FOR CAVERNOUS MALFORMATIONS OF THE BRAIN MAPS TO CHROMOSOME 7Q
DUBOVSKY, J
ZABRAMSKI, JM
KURTH, J
SPETZLER, RF
RICH, SS
ORR, HT
WEBER, JL
HUMAN MOLECULAR GENETICS, 1995, 4 (03) : 453 - 458
[48] THE GENE FOR TRIPHALANGEAL THUMB MAPS TO THE SUBTELOMERIC REGION OF CHROMOSOME 7Q
HEUTINK, P
ZGURICAS, J
VANOOSTERHOUT, L
BREEDVELD, GJ
TESTERS, L
SANDKUIJL, LA
SNIJDERS, PJLM
WEISSENBACH, J
LINDHOUT, D
HOVIUS, SER
OOSTRA, BA
NATURE GENETICS, 1994, 6 (03) : 287 - 292
[49] Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q
Piero Pavone
Martino Ruggieri
Ilaria Lombardo
Jyotsna Sudi
Roberta Biancheri
Danilo Castellano-Chiodo
Andrea Rossi
Gemma Incorpora
Norma J. Nowak
Susan L. Christian
Lorenzo Pavone
William B. Dobyns
European Journal of Pediatrics, 2010, 169 : 475 - 481
[50] TINY INTERSTITIAL DUPLICATION OF PROXIMAL 7Q IN ASSOCIATION WITH A MATERNAL PARACENTRIC INVERSION
HOO, JJ
LORENZ, R
FISCHER, A
FUHRMANN, W
HUMAN GENETICS, 1982, 62 (02) : 113 - 116

← 1 2 3 4 5 →