Contiguous deletion syndromes

被引：67

作者：

Ballabio, Andrea ^{[1
]}

机构：

[1] Baylor Coll Med, Inst Mol Genet, One Baylor Plaza, Houston, TX 77030 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 1991年 / 1卷 / 01期

关键词：

D O I：

10.1016/0959-437X(91)80036-L

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

In the past few years, clinical, cytogenetic and molecular analysis of patients with complex phenotypes has led to the identification of syndromes caused by deletions of adjacent disease genes on a chromosome. These conditions, referred to as contiguous deletion syndromes, are an important component of the syndromes recognized in medical genetics, and the DNA from patients affected by these disorders is useful for the mapping and cloning of disease genes.

引用

页码：25 / 29

页数：5

共 32 条

[1] AUTALO T, 1990, AM J HUM GENET, V48, P31
[2] MOLECULAR CHARACTERIZATION OF HUMAN X/Y TRANSLOCATIONS SUGGESTS THEIR ETIOLOGY THROUGH ABERRANT EXCHANGE BETWEEN HOMOLOGOUS SEQUENCES ON XP AND YQ
BALLABIO, A
CARROZZO, R
GIL, A
GILLARD, B
AFFARA, N
FERGUSONSMITH, MA
FRASER, N
CRAIG, I
ROCCHI, M
ROMEO, G
ANDRIA, G
[J]. ANNALS OF HUMAN GENETICS, 1989, 53 : 9 - 14
[3] X-LINKED ICHTHYOSIS, DUE TO STEROID SULFATASE DEFICIENCY, ASSOCIATED WITH KALLMANN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA) - LINKAGE RELATIONSHIPS WITH XG AND CLONED DNA-SEQUENCES FROM THE DISTAL SHORT ARM OF THE X-CHROMOSOME
BALLABIO, A
PARENTI, G
TIPPETT, P
MONDELLO, C
DIMAIO, S
TENORE, A
ANDRIA, G
[J]. HUMAN GENETICS, 1986, 72 (03) : 237 - 240
[4] 2 FAMILIES OF LOW-COPY-NUMBER REPEATS ARE INTERSPERSED ON XP22.3 - IMPLICATIONS FOR THE HIGH-FREQUENCY OF DELETIONS IN THIS REGION
BALLABIO, A
BARDONI, B
GUIOLI, S
BASLER, E
CAMERINO, G
[J]. GENOMICS, 1990, 8 (02) : 263 - 270
[5] BAuArtio A, 1989, P NATL ACAD SCI USA, V86, P10001
[6] WILMS-TUMOR LOCUS ON 11P13 DEFINED BY MULTIPLE CPG ISLAND-ASSOCIATED TRANSCRIPTS
BONETTA, L
KUEHN, SE
HUANG, A
LAW, DJ
KALIKIN, LM
KOI, M
REEVE, AE
BROWNSTEIN, BH
YEGER, H
WILLIAMS, BRG
FEINBERG, AP
[J]. SCIENCE, 1990, 250 (4983) : 994 - 997
[7] BOWEN P, 1985, ANN GENET-PARIS, V28, P224
[8] ISOLATION AND CHARACTERIZATION OF A ZINC FINGER POLYPEPTIDE GENE AT THE HUMAN CHROMOSOME-11 WILMS TUMOR LOCUS
CALL, KM
GLASER, T
ITO, CY
BUCKLER, AJ
PELLETIER, J
HABER, DA
ROSE, EA
KRAL, A
YEGER, H
LEWIS, WH
JONES, C
HOUSMAN, DE
[J]. CELL, 1990, 60 (03) : 509 - 520
[9] CLONING OF A GENE THAT IS REARRANGED IN PATIENTS WITH CHOROIDEREMIA
CREMERS, FPM
VANDEPOL, DJR
VANKERKHOFF, LPM
WIERINGA, B
ROPERS, HH
[J]. NATURE, 1990, 347 (6294) : 674 - 677
[10] PHYSICAL FINE MAPPING OF THE CHOROIDEREMIA LOCUS USING XQ21 DELETIONS ASSOCIATED WITH COMPLEX SYNDROMES
CREMERS, FPM
VANDEPOL, DJR
DIERGAARDE, PJ
WIERINGA, B
NUSSBAUM, RL
SCHWARTZ, M
ROPERS, HH
[J]. GENOMICS, 1989, 4 (01) : 41 - 46

← 1 2 3 4 →