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Re: ?premature menopause From: Bert Gold (bgold@ktb.net) Tue Aug 3 21:24:39 1999 Messages sorted by: [ date ][ thread ][ subject ][ author ] Next message: narendra: "hysteroscopy" Previous message: Patti Tessler: "Re: Please, no HTML in posts!" Maybe in reply to: Dr. John Teo M.R.C.O.G: "?premature menopause" Next in thread: ATB28@aol.com: "Re: ?premature menopause" Dr. Newton wrote: > > Probably straight out premature failure. Autoimmune, perhaps. > Colleagues, This is one common way to ascertain families predisposed to FXS (Fragile X Syndrome). To quote Dr. McKusick's Online Version of Mendelian Inheritance in Man: "Murray et al. (1998) screened 147 women with idiopathic premature ovarian failure and found a significant association with premutations in the FMR1 gene, with 6 women having premutations, including 4 familial and 2 sporadic cases, but no women with full mutations in the FMR1 gene. There were no pre- or full mutations of the FMR2 gene, but there was an excess of small alleles with fewer than 11 repeats at this locus. Murray et al. (1998) concluded that premutations of FMR1 can affect ovarian development or function, or both. AND Russo et al. (1998) described a female who was a compound heterozygote, having a full FMR1 mutation on one X chromosome and a premutation on the other X chromosome. The parents came from the same small village. Russo et al. (1998) found reports of 2 previous instances of compound heterozygous females (Mila et al., 1996; Linden et al., 1999). The proband's mother and aunt reported that they had undergone premature ovarian failure at 35 years of age. Allingham-Hawkins, D. J.; Babul-Hirji, R.; Chitayat, D.; Holden, J. J. A.; Yang, K. T.; Lee, C.; Hudson, R.; Gorwill, H.; Nolin, S. L.; Glicksman, A.; Jenkins, E. C.; Brown, W. T.; and 27 others : Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study--preliminary data. Am. J. Med. Genet. 83: 322-325, 1999. PubMed ID : 10208170 Murray, A.; Webb, J.; Grimley, S.; Conway, G.; Jacobs, P. : Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 35: 637-640, 1998. PubMed ID : 9719368 Russo, S.; Briscioli, V.; Cogliati, F.; Macchi, M.; Lalatta, F.; Larizza, L. : An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation. Clin. Genet. 54: 309-314, 1998. PubMed ID : 9831342 -- ####################################################################### Bert Gold, Ph.D. Vita brevis [life is short] Research & Development & Ars longa [the art long] Genetic Testing Center Occasio praeceps [the occasion instant] SBCL, Inc. Experientia fallax [experiment perilous] 7600 Tyrone Avenue Judicium dificile [decision difficult] Van Nuys, Calf. -Hippocrates Translation by bgold@ktb.net Dr. Melvin Konner bert.gold@sb.com VOICE: 818-376-6332 http://www.ktb.net/~bgold FAX: 818-376-6387 ####################################################################### Next message: narendra: "hysteroscopy" Previous message: Patti Tessler: "Re: Please, no HTML in posts!" Maybe in reply to: Dr. John Teo M.R.C.O.G: "?premature menopause" Next in thread: ATB28@aol.com: "Re: ?premature menopause"

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