The Fragile X syndrome
著者
書誌事項
The Fragile X syndrome
（Molecular medicine）
Oxford University Press, 1989
- : U.K. : est.
大学図書館所蔵 件 / 全3件
-
該当する所蔵館はありません
- すべての絞り込み条件を解除する
注記
Includes bibliographies
内容説明・目次
内容説明
Controversy and difficulties of definition and diagnosis have surrounded the mental retardation syndrome associated with a gap in the X chromosome ever since it was first described some 25 years ago. Individuals who are affected show varying degrees of retardation, an elongated face and macro-orchidism. It is generally agreed that the condition is second only to Down Syndrome as a specific cause of mental retardation. The syndrome is more common in boys than in girls, but can be inherited from either parent, so each case diagnosed necessarily involves the investigation of an extensive number of relatives. To date the precise nature of the defect is unknown, but it has been mapped with the aid of DNA probes. These probes can be useful for tracing inheritance within a family, for detecting carriers, and for assisting in the laboratory in attempts to isolate and characterize the defect, which should lead to improvements in pre-natal diagnostic techniques and in the clinical management of patients. This volume contains a series of essays designed to introduce and review clinical and biological knowledge of the mental retardation syndrome for a non-specialist audience.
Current research and development is examined, and experts in the field attempt to point the way for future work.
目次
- X-linked mental retardation and the fragile X syndrome - a clinical approach, J.-P.Fryns
- the epidemiology of the fragile X syndrome, T.Webb
- behaviour and treatment of the fragile X syndrome, R.Hagerman
- DNA studies of the fragile X mutation, W.T.Brown
- cytogenetics of the fragile site at Xq27, N.Tommerup.
「Nielsen BookData」 より
