Bibliography on X‐linked mental retardation and related subjects III (1986)

Abstract

J .M. 0. ) As promised i n a previous issue, from tims t o tim we s h a l l provide t h e readers of the American Journal of M e d ical Genetics with an updated bibliography on X-linked mental retardation (XIN?) and r e l a t e d subjects. W e did so last i n 1985. During t h e f i r s t 20 years of work i n the f i e l d (1944-1965) only a h l f dozen or sc papers were publ.ished on XIMK. The bibliography published by Turner and O p i t z [Am J Med Genet 7:407-4151 c i t e d sme 180 items; t h e Conference R e p o r t cjn +b.e ( F i r s t ) Iriternational Workshop on t h e f r a g i l e X and X-linked Mental Retardation by Opitz ~x-~d. Sutherland [Am J Med Genet 17:5-94, 19841 listed sore 360 items; m-d t h e (1985): A comparison of fragile X expression i n blood md lyqhoblastoid cultures. Am J Hum Genet 37:A84 (only) [Suppll. methior~ne and 5-azacytidine on fragile X expression. Am J Hum Genet 37:193-198.B r e w s t e r T, Moreau E , Wilson M, Brcanley W, R.derick T, L a t t SA (1984): A strategy t o reveal high-frequency k r u z z o MA, Mayer M, Jacobs FA (1985): ?'he effect of Aldridge J, K u n k e l L, B r u n s G, Tantravahi U, Lalande M, XLMR Bibliography 71 RFLPs along the human X chrmsame. Am J Hum Genet 36:546-564. Atkin JF, F l a i t z K, P a t i l S, Smith W (1985): A new X--linked m n t a l retardation s y n d r m . Am J Med Genet 21:697-705. Baraitser M, Burn J (1984): Brief clinical report: Neural tube defects a s an X-linked condition. Am J M e d Genet i7:m-385. Barbi G, Steinbach P, Baur S, Vogel W (1985): Manifestat i o n of the f r a g i l e site Xq27 i n fibroblasts. IV. Clones f r m a heterozygous f m l e do not marlifest this site hamogeneously on either the early o r late replicating X c h r m m . Confounding factors i n f r a g i l e X diagnosis -Possible e f f e c t s of medi.cations and smoking. Marrunalian C h r msome Newsletter 25:2 (only). factors i n f r a g i l e X diagnosis. (only) [Abstract]. Bartley JA, Miller DK, Hayford JT (1982): Concordance of X-linked glycerol kinase deficiency with X-linked cong e n i t a l adrenal h y p p l a s i a . Lancet 2:733-736. Beck M, Gl6ssl J, Fditer R, Kresse H (1983): Abnormal proteo dermatan s u l f a t e i n three patients with Coffin-Lmry syndrom. Pediatr R e s 17:926-928.

P3 Abnormality in fragile X syndrome

“…Also called fragile X syndrome, it has an incidence of 1 in 2000 males and is associated in a proportion of cells with a fragile site at the end of the long arm of the X chromosome (Xq27/28) (Sutherland 1977). Recent research into the condition has focused largely on cytogenetic aspects (Opitz et al 1985(Opitz et al , 1986, and no theory of neuropathogenesis has yet emerged to account for the mental handicap and behavioral problems characteristic of the fragile X phenotype (Fryns et al 1984;Largo and Schinzel 1984). Slight to moderate diffuse electroencephalogram (EEG) abnormalities are found in a proportion of cases, and some atrophy on computed tomography (CT) scan has also been reported (Brondum-Nielsen 1983).…”

Klinefelter syndrome and associated Fragile‐X syndrome

“…Since the first description of Fragile-X syndrome, an X-linked inherited disorder associated with mental retardation, dysmorphic features, macro-orchidism and aberrant behaviours (Turner et al, 1978;Bowen et al, 1978;Sutherland & Ashforth, 1979;Jacobs et al, 1979;Turner et al, 1980), numerous reports on this subject have appeared in the medical literature (Opitz & Sutherland, 1984;Opitz et al, 1985). A recent publication provides an overview of the clinical characteristics, cytogenetic aspects, behavioural and language dysfunctions, counselling, treatment, and intervention services, as well as other concerns as they relate to Fragile-X syndrome (Hagerman & McKenzie McBogg, 1983).…”