TRISOMY-21 FOR THE REGION 21Q223 - IDENTIFICATION BY HIGH-RESOLUTION R-BANDING PATTERNS

被引：43

作者：

MATTEI, JF

MATTEI, MG

BAETEMAN, MA

GIRAUD, F

机构：

来源：

HUMAN GENETICS | 1981年 / 56卷 / 03期

关键词：

D O I：

10.1007/BF00274703

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Use of high resolution R-banding patterns led to the identification of partial trisomy 21 involving the sub-band 21q223 in a 4 yr old girl. Despite the dissociation of certain clinical features, the phenotypic signs, especially dysmorphism and encephalopathy, were highly suggestive of trisomy 21. Superoxide dismutase A activity was in the normal range.

引用

页码：409 / 411

页数：3

共 9 条

[1] RADIOIMMUNOASSAY FOR COPPER CONTAINING SUPEROXIDE-DISMUTASE
BARET, A
MICHEL, P
IMBERT, MR
MORCELLET, JL
MICHELSON, AM
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1979, 88 (02) : 337 - 345
[2] NORMAL PHENOTYPE AND PARTIAL TRISOMY FOR THE G-POSITIVE REGION OF CHROMOSOME-21
DANIEL, A
[J]. JOURNAL OF MEDICAL GENETICS, 1979, 16 (03) : 227 - 229
[3] GIRAUD F, 1977, ANN GENET-PARIS, V20, P203
[4] MATTEI JF, 1979, ARCH FR PEDIATR, V36, P404
[5] POISSONNIER M, 1976, ANN GENET-PARIS, V19, P69
[6] TRISOMY-21 AND SUPEROXIDE DISMUTASE-1 (IPO-A) - ATTEMPT AT LOCALIZATION ON SUB-BAND 21Q 22.1
SINET, PM
COUTURIER, J
DUTRILLAUX, B
POISSONNIER, M
RAOUL, O
RETHORE, MO
ALLARD, D
LEJEUNE, J
JEROME, H
[J]. EXPERIMENTAL CELL RESEARCH, 1976, 97 (01) : 47 - 55
[7] SINET PM, 1974, CR ACAD SCI D NAT, V278, P3267
[8] CASE OF 21Q - SYNDROME WITH NORMAL SOD-1 ACTIVITY
YAMAMOTO, Y
OGASAWARA, N
GOTOH, A
KOMIYA, H
NAKAI, H
KUROKI, Y
[J]. HUMAN GENETICS, 1979, 48 (03) : 321 - 327
[9] CHARACTERIZATION OF HIGH-RESOLUTION G-BANDED CHROMOSOMES OF MAN
YUNIS, JJ
SAWYER, JR
BALL, DW
[J]. CHROMOSOMA, 1978, 67 (04) : 293 - 307

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