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PRESUMPTIVE LONG ARM DELETION OF CHROMOSOME-8 - NEW SYNDROME
被引:27
作者
:
TAYSI, K
论文数:
0
引用数:
0
h-index:
0
机构:
ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110
TAYSI, K
NOETZEL, MJ
论文数:
0
引用数:
0
h-index:
0
机构:
ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110
NOETZEL, MJ
STRAUSS, AW
论文数:
0
引用数:
0
h-index:
0
机构:
ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110
STRAUSS, AW
机构
:
[1]
ST LOUIS CHILDRENS HOSP,DIV MED GENET,ST LOUIS,MO 63110
[2]
ST LOUIS CHILDRENS HOSP,DIV CARDIOL,ST LOUIS,MO 63110
来源
:
HUMAN GENETICS
|
1979年
/ 51卷
/ 01期
关键词
:
D O I
:
10.1007/BF00278291
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome. © 1979 Springer-Verlag.
引用
收藏
页码:49 / 53
页数:5
相关论文
共 3 条
[1]
SMALL STRUCTURAL-CHANGES OF CHROMOSOME-8 - 2 CASES WITH EVIDENCE FOR DELETION
[J].
BEIGHLE, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
BEIGHLE, C
;
KARP, LE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
KARP, LE
;
HANSON, JW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HANSON, JW
;
HALL, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HALL, JG
;
HOEHN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HOEHN, H
.
HUMAN GENETICS,
1977,
38
(01)
:113
-121
[2]
DELETION OF LONG ARM OF CHROMOSOME-8 RESULTING FROM A DENOVO TRANSLOCATION T(4-8) (Q13-Q213)
[J].
DALLAPICCOLA, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
DALLAPICCOLA, B
;
SANTORO, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
SANTORO, L
;
TRABACE, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
TRABACE, S
;
RAMENGHI, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
RAMENGHI, M
;
MASTROIACOVO, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
MASTROIACOVO, P
;
GANDINI, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
GANDINI, E
.
HUMAN GENETICS,
1977,
38
(02)
:125
-130
[3]
1972, BIRTH DEFECTS OAS, V8
←
1
→
共 3 条
[1]
SMALL STRUCTURAL-CHANGES OF CHROMOSOME-8 - 2 CASES WITH EVIDENCE FOR DELETION
[J].
BEIGHLE, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
BEIGHLE, C
;
KARP, LE
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
KARP, LE
;
HANSON, JW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HANSON, JW
;
HALL, JG
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HALL, JG
;
HOEHN, H
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
UNIV WASHINGTON,CTR INHERITED DIS,SEATTLE,WA 98195
HOEHN, H
.
HUMAN GENETICS,
1977,
38
(01)
:113
-121
[2]
DELETION OF LONG ARM OF CHROMOSOME-8 RESULTING FROM A DENOVO TRANSLOCATION T(4-8) (Q13-Q213)
[J].
DALLAPICCOLA, B
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
DALLAPICCOLA, B
;
SANTORO, L
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
SANTORO, L
;
TRABACE, S
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
TRABACE, S
;
RAMENGHI, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
RAMENGHI, M
;
MASTROIACOVO, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
MASTROIACOVO, P
;
GANDINI, E
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV ROME,CATTEDRA GENET MED,I-00100 ROME,ITALY
GANDINI, E
.
HUMAN GENETICS,
1977,
38
(02)
:125
-130
[3]
1972, BIRTH DEFECTS OAS, V8
←
1
→