Improved technique for the expression of fragile-X in cultured amniotic fluid cells

Koskull, Harriet von; Aula, Pertti; Ämmälä, Pirkko; Nordström, Ann-Marie; Rapola, Juhani

doi:10.1007/bf00293028

Cited by 13 publications

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References 22 publications

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“…Prenatal diagnosis was performed on 13 pregnancies at risk for fra(X). There have been other reports in the literature concerning prenatal diagnosis of fra(X) (Shapiro and Wilmot, 1986;Shapiro et al, 1988;Purvis Smith et al, 1988;Tommerup et al, 1986;McKinley et al, 1988;Jenkins et al, 1988;Tejada et al, 1983;Von Koskull et al, 1985;Schmidt and Passarge, 1986). Most of these studies present data obtained from methods using different culture media or induction treatments.…”

Section: Discussionmentioning

confidence: 99%

“…The fragile X (fra(X)) syndrome is one of the major causes of mental retardation among mentally retarded boys next to trisomy 21 (Von Koskull et al, 1985). Since 1980, we have had the opportunity to study the expression of fra(X) in 30 families.…”

Section: Introductionmentioning

confidence: 99%

“…Since Jenkins et al (1981) showed the feasibility of prenatal diagnosis utilizing cultured amniotic fluid cells, several studies of the validation of the reliability of this method have been reported (Jenkins et al, 1988;Mattei et al, 1981;McKinley et al, 1988;Schmidt and Passarge, 1986;Tejada et al, 1983;Von Koskull et al, 1985).…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures

et al. 1992

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Since 1987, we have had experience with 13 prenatal diagnoses of 11 women at risk for the fragile X syndrome by cytogenetic studies on amniotic fluid cultures. The induction method included TC 199 medium and methotrexate. Results were obtained in all cases. Ten were males and three were prenatally diagnosed as being affected. Three were females and none of them was fra(X)-positive. Results were confirmed in 10/13 cases. In these cases, we had neither false-positive nor false-negative results.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures

et al. 1992

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

et al. 1986

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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.

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The prenatal detection of the fragile X chromosome: Review of recent experience

et al. 1986

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The fragile X chromosome has been identified in specimens from 17 male and 10 female fetuses in 11 laboratories throughout the world, obtained from at least 79 fetuses at increased risk for the fra(X) syndrome. Of these, 19 were confirmed, 6 were pending, 1 was negative and 1 could not be confirmed. Twenty-five of the 79 cases were studied in our laboratory (Institute for Basic Research [IBR]) and resulted in fra(X) demonstration in specimens from 3 male and 5 female fetuses. All 3 males and 2 of the 5 females have been confirmed. When amniocytes from the two confirmed female fetuses were exposed to FUdR after culturing in Chang medium, fra(X) frequencies were virtually negative indicating that Chang medium should not be used in fragile X studies at least when FUdR is used to induce fragility. Finally, amniocytes from a fra(X) male fetus studied in 3 different laboratories exhibited strikingly different frequencies. To date, we have experienced no false-positives or negatives, but the latter case was controversial. It is recommended that laboratories undertaking fra(X) prenatal detection use a combination of at least two different proven induction systems as well as complementary DNA marker studies to prevent false negative diagnosis.

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Improved technique for the expression of fragile-X in cultured amniotic fluid cells

Cited by 13 publications

References 22 publications

Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures

Cytogenetic experience in prenatal fra(X) detection on amniotic fluid cultures

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

The prenatal detection of the fragile X chromosome: Review of recent experience

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