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Titolo:
Some problems in the genetics of X-linked mental retardation
Autore:
Tariverdian, G; Vogel, F;
Indirizzi:
Univ Heidelberg, Genet Poliklin, Inst Human Genet, D-69120 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-69120 , D-69120 Heidelberg, Germany
Titolo Testata:
CYTOGENETICS AND CELL GENETICS
fascicolo: 1-4, volume: 91, anno: 2000,
pagine: 278 - 284
SICI:
0301-0171(2000)91:1-4<278:SPITGO>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X; RETT-SYNDROME; MASA-SYNDROME; CGG REPEAT; FMR1 GENE; MUTATION; LOCALIZATION; INSTABILITY; POPULATION; PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
64
Recensione:
Indirizzi per estratti:
Indirizzo: Tariverdian, G Univ Heidelberg, Genet Poliklin, Inst Human Genet, Neuenheimer Feld 344 A,D-69120 Heidelberg, Germany Univ Heidelberg Neuenheimer Feld344 A Heidelberg Germany D-69120
Citazione:
G. Tariverdian e F. Vogel, "Some problems in the genetics of X-linked mental retardation", CYTOG C GEN, 91(1-4), 2000, pp. 278-284

Abstract

S-linked mental retardation has recently become one of the most interesting genetic anomalies. Studying this group of conditions has led to many insights into the mechanisms involved in normal and abnormal gene actions in humans. Since the early 19805, the number of disease entities for which the responsible genes could be localized on the X chromosome has increased from year to year; at the Ninth International Workshop on Fragile-X-Syndrome andX-linked Mental Retardation, 199 such disease units were counted (Hamel. 1999). Conventionally, these units were subdivided into two groups: syndromal and non-syndromal types. The syndromal types are characterized by external features, neurological signs, and/or metabolic anomalies. The non-syndromal types do not show such specific features; here, the X-linked mode of inheritance is the only indicator. Due to the reduced reproduction of mentallyseverely retarded males? a relatively high fraction of new mutants among cases of a specific type must be expected. It cannot be the purpose of the present short article to review sufficiently well the entire field; this would require a complete book. Rather, it is our intention to point to some open problems and possible ways for their solution. copyright (C) 2001 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 12:17:42