Workshop for family and friends .2. Family perspectives

被引：0

作者：

Holden, JJA

Wing, M

Chalifoux, M

JulienInalsingh, C

Sood, R

White, BN

Holmes, A

Lokkesmoe, R

Wiens, R

Lee, BA

Soudek, D

Frost, P

机构：

[1] QUEENS UNIV,DEPT PSYCHIAT,KINGSTON,ON K7L 3N6,CANADA

[2] QUEENS UNIV,DEPT BIOL,KINGSTON,ON K7L 3N6,CANADA

[3] ONGWANADA RESOURCE CTR,DEV COUNSELLING SERV,KINGSTON,ON K7M 8A6,CANADA

[4] MCMASTER UNIV,DEPT BIOL,HAMILTON,ON,CANADA

来源：

DEVELOPMENTAL BRAIN DYSFUNCTION | 1995年 / 8卷 / 4-6期

关键词：

fragile X syndrome; fragile X chromosome; FMR1; gene; family studies;

D O I：

暂无

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We have been involved in the testing and counselling of families with the fragile X syndrome since 1978. During that time we have identified or been referred 94 families with this syndrome. As new methods were introduced for the detection of the fragile X chromosome by cytogenetic, linkage, and most recently direct DNA testing, we reexamined all individuals for whom we had been collecting blood samples for eventual DNA diagnosis. This section illustrates the principles of the diagnostic procedures described in part 1 of this workshop, as well as some of the reactions by some of the family members to refinement of the diagnosis with emerging technology.

引用

页码：380 / 389

页数：10

共 23 条

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