𝔖 Bobbio Scriptorium
✦   LIBER   ✦

SES17.02 Behavioural phenotypes in different forms of X-linked mental retardation

✍ Scribed by J.P. Fryns; M. Borghgraef; S. Frints; J. Steyaert; L.M.G. Curfs

Book ID
119566686
Publisher
Elsevier Science
Year
2000
Tongue
French
Weight
113 KB
Volume
15
Category
Article
ISSN
0924-9338

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Significance of phenotypic and chromosom
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome)
✍ Jennings, M. ;Hall, J. G. ;Hoehn, H. ;Herrmann, JΓΌrgen πŸ“‚ Article πŸ“… 1980 πŸ› John Wiley and Sons 🌐 English βš– 887 KB

## Abstract With the exception of macro‐orchidism, three families with X‐linked mental retardation showed diagnostic concordance of clinical features among the affected males. Since macro‐orchidism was a variable feature among the otherwise identically affected males in one family, we question the

Fra(X) frequency on the active X-chromos
Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation
✍ Wilhelm, Dorothea ;Froster-Iskenius, Ursula ;Paul, JΓΌrgen ;Schwinger, Eberhard πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 416 KB πŸ‘ 2 views

Female heterozygotes of the fra(X) form of mental retardation show variable degrees of mental impairment and phenotype expression of the disorder. This might be an effect of inactivation of the X-chromosome which carries the fra(X)(q). Prior replication studies in heterozygous carriers gave contradi