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We have performed detailed studies of the spreading of X inactivation in five unbalanced human X;autosome translocations. Using allele-specific RT-PCR we observed long-range silencing of autosomal genes located up to 45 Mb from the translocation breakpoint, directly demonstrating the ability of X inactivation to spread in cis through autosomal DNA.(More)
Women become infertile approximately 10 years before menopause, and as more women delay childbirth into their 30s, the number of women who experience infertility is likely to increase. Tests that predict the timing of menopause would allow women to make informed reproductive decisions. Current predictors are only effective just prior to menopause, and there(More)
BACKGROUND It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear. METHODS We have therefore investigated the incidence of these intermediate sized FMR1 CGG repeats (35-58 repeats) in a series of 366 women ascertained(More)
Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instruction, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing the collection of information. Send comments regarding this burden estimate or any other aspect of this(More)
PURPOSE Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors(More)
BACKGROUND Men with Klinefelter syndrome have one or more extra X chromosomes and have endocrine abnormalities. Case reports have led to suggestions that men with Klinefelter syndrome have elevated risks of several cancers, but published cohort studies have been relatively small. We conducted a nationwide cohort study to examine these risks. METHODS We(More)
Blue strike aircraft enter region ᏾ to attack Red targets. In Case 1, Blue conducts (preplanned) SEAD to establish air superiority. In the (reactive) SEAD scenario, which is Case 2, such superiority is already in place, but is jeopardized by prohibitive interference from Red, which threatens Blue's ability to conduct missions. We utilize both deterministic(More)
PURPOSE Primary ovarian insufficiency before the age of 40 years affects 1% of the female population and is characterized by permanent cessation of menstruation. Genetic causes include FMR1 expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary ovarian insufficiency, but these are likely to be biased as(More)
This paper addresses the problem of scheduling randomly arriving tasks of di€erent types at a diversi®ed service system. Servers at such a system di€er in that each may specialize in one task type, but can also perform others perhaps less rapidly and adequately than does a specialist. We consider the issue of how much redirection of tasks from specialists(More)