FRAGILE-X SCREENING-PROGRAM IN A SPANISH REGION

被引：10

作者：

GABARRON, J

LOPEZ, I

GLOVER, G

CARBONELL, P

机构：

[1] Unidad de Genetica Humana, Inst. de Bioquimica Genetica Clinica, Conjunto Residencial de Espinardo, Espinardo 30100

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 1-2期

关键词：

FRA(X) SYNDROME; X-LINKED MENTAL RETARDATION; GENETIC COUNSELING;

D O I：

10.1002/ajmg.1320430151

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty-three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.1% were unrelated. Family studies identified a large number of obligate carriers and women at risk for being carriers who were given genetic counseling including prenatal diagnostic information. Considering the age of the carriers and the fertility rate, 23 affected males could be born to these women. The prevention potential of this program suggests that it is highly cost-effective.

引用

页码：333 / 338

页数：6

共 19 条

[1] BLOMQUIST HK, 1982, CLIN GENET, V21, P209
[2] BLOMQUIST HK, 1983, CLIN GENET, V24, P393
[3] A COMMUNITY STUDY OF SEVERE MENTAL-RETARDATION IN THE WEST MIDLANDS AND THE IMPORTANCE OF THE FRAGILE X-CHROMOSOME IN ITS ETIOLOGY
BUNDEY, S
WEBB, TP
THAKE, A
TODD, J
[J]. JOURNAL OF MEDICAL GENETICS, 1985, 22 (04) : 258 - 266
[4] DOBKIN CS, 1991, LANCET, V338, P957
[5] FRYNS JP, 1983, CLIN GENET, V23, P203
[6] ISOLATION OF SEQUENCES THAT SPAN THE FRAGILE-X AND IDENTIFICATION OF A FRAGILE-X RELATED CPG ISLAND
HEITZ, D
ROUSSEAU, F
DEVYS, D
SACCONE, S
ABDERRAHIM, H
LEPASLIER, D
COHEN, D
VINCENT, A
TONIOLO, D
DELLAVALLE, G
JOHNSON, S
SCHLESSINGER, D
OBERLE, I
MANDEL, JL
[J]. SCIENCE, 1991, 251 (4998) : 1236 - 1239
[7] HIRST M, 1991, LANCET, V338, P956, DOI 10.1016/0140-6736(91)91831-E
[8] KAHKONEN M, 1987, HUM GENET, V77, P85
[9] FRAGILE-X SCREENING-PROGRAM IN NEW-YORK-STATE
NOLIN, SL
SNIDER, DA
JENKINS, EC
BROWN, WT
KRAWCZUN, M
STETKA, D
HOUCK, G
DOBKIN, CS
STRONG, G
SMITHDOBRANSKY, G
VICTOR, A
HUGHES, K
KIMPTON, D
LITTLE, A
NAGARAJA, U
KENEFICK, B
SULLIVAN, C
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (2-3): : 251 - 255
[10] INSTABILITY OF A 550 BASE PAIR DNA SEGMENT AND ABNORMAL METHYLATION IN FRAGILE X-SYNDROME
OBERLE, I
ROUSSEAU, F
HEITZ, D
KRETZ, C
DEVYS, D
HANAUER, A
BOUE, J
BERTHEAS, MF
MANDEL, JL
[J]. SCIENCE, 1991, 252 (5009) : 1097 - 1102

← 1 2 →