History XYY syndrome

1 history

1.1 1960s
1.2 1970s
1.3 1980s , later

history
1960s

in april 1956, hereditas published discovery cytogeneticists joe hin tjio , albert levan @ lund university in sweden normal number of chromosomes in diploid human cells 46—not 48 had been believed preceding thirty years. in wake of establishment of normal number of human chromosomes, 47,xyy last of common sex chromosome aneuploidies discovered, 2 years after discoveries of 47,xxy, 45,x, , 47,xxx in 1959. less common 48,xxyy had been discovered in 1960, year before 47,xyy.

screening x chromosome aneuploidies possible noting presence or absence of female sex chromatin bodies (barr bodies) in nuclei of interphase cells in buccal smears, technique developed decade before first reported sex chromosome aneuploidy. analogous technique screen y-chromosome aneuploidies noting supernumerary male sex chromatin bodies not developed until 1970, decade after first reported sex chromosome aneuploidy.

the first published report of man 47,xyy karyotype internist , cytogeneticist avery sandberg , colleagues @ roswell park memorial institute in buffalo, new york in 1961. incidental finding in normal 44-year-old, 6 ft. [183 cm] tall man of average intelligence karyotyped because had daughter down syndrome. dozen isolated 47,xyy cases reported in medical literature in 4 years following first report sandberg.

then, in december 1965 , march 1966, nature , lancet published first preliminary reports british cytogeneticist patricia jacobs , colleagues @ mrc human genetics unit @ western general hospital in edinburgh of chromosome survey of 315 male patients @ state hospital in carstairs, lanarkshire—scotland s special security hospital developmentally disabled—that found 9 patients, ages 17 36, averaging 6 ft. in height (avg. 5 11 , range: 5 7 6 2 ), had 47,xyy karyotype, , mischaracterized them aggressive , violent criminals. on next decade, published xyy studies on height-selected, institutionalized xyy males.

in january 1968 , march 1968, lancet , science published first u.s. reports of tall, institutionalized xyy males mary telfer, biochemist, , colleagues @ elwyn institute. telfer found 5 tall, developmentally disabled xyy boys , men in hospitals , penal institutions in pennsylvania, , since 4 of 5 had @ least moderate facial acne, reached erroneous conclusion acne defining characteristic of xyy males. after learning convicted mass murderer richard speck had been karyotyped, telfer not incorrectly assumed acne-scarred speck xyy, reached false conclusion speck archetypical xyy male—or supermale telfer referred xyy males outside of peer-reviewed scientific journals.

in april 1968, new york times—using telfer main source—introduced xyy genetic condition general public in three-part series on consecutive days began sunday front-page story planned use of condition mitigating factor in 2 murder trials in paris , melbourne—and falsely reported richard speck xyy male , condition used in appeal of murder conviction. series echoed following week articles—again using telfer main source—in time , newsweek, , 6 months later in new york times magazine.

in december 1968, journal of medical genetics published first xyy review article—by michael court brown, director of mrc human genetics unit—which reported no overrepresentation of xyy males in nationwide chromosome surveys of prisons , hospitals developmentally disabled , mentally ill in scotland, , concluded studies confined institutionalized xyy males may guilty of selection bias, , long-term longitudinal prospective studies of newborn xyy boys needed.

in may 1969, @ annual meeting of american psychiatric association, telfer , elwyn institute colleagues reported case studies of institutionalized xyy , xxy males had found convinced them xyy males had been falsely stigmatized , behavior may not different chromosomally normal 46,xy males.

in june 1969, national institute of mental health (nimh) center studies of crime , delinquency held two-day xyy conference in chevy chase, maryland. in december 1969, grant nimh center studies of crime , delinquency, cytogeneticist digamber borgaonkar @ johns hopkins hospital began chromosome survey of (predominantly african-american) boys ages 8 18 in maryland institutions delinquent, neglected, or mentally ill juveniles, suspended february–may 1970 due american civil liberties union (aclu) lawsuit lack of informed consent. concurrently, through 1974, psychologist john money @ johns hopkins hospital experimented on thirteen xyy boys , men (ages 15 37) in unsuccessful attempt treat history of behavior problems chemical castration using high-dose depo-provera—with side-effects of weight gain (avg. 26 lbs.) , suicide.

1970s

in december 1969, lore zech @ karolinska institute in stockholm first reported intense fluorescence of at-rich distal half of long arm of y chromosome in nuclei of metaphase cells treated quinacrine mustard. in april 1970, peter pearson , martin bobrow @ mrc population genetics unit in oxford , canino vosa @ university of oxford reported fluorescent male sex chromatin bodies in nuclei of interphase cells in buccal smears treated quinacrine dihydrochloride, used screen y chromosome aneuploidies 47,xyy.

in june 1970, xyy man published—the first of 7 kenneth royce spy novels fictional tall, intelligent, nonviolent xyy hero reformed expert cat burglar recruited british intelligence dangerous assignments—and later adapted thirteen-episode british summer television series broadcast in 1976 , 1977. in other fictional television works, january 1971 episode pricking of thumbs ... of british science fiction tv series doomwatch featured xyy boy expelled school because genetic condition led him falsely accused of blinding boy, november 1993 episode born bad of american police procedural tv series law & order portrayed 14-year-old xyy sociopathic murderer, , may 2007 season finale episode born kill of american police procedural tv series csi: miami depicted 34-year-old xyy serial killer. false stereotype of xyy boys , men violent criminals has been used plot device in horror films il gatto nove code in february 1971 (dubbed english cat o 9 tails in may 1971) , alien 3 in may 1992.

in december 1970, @ annual meeting of american association advancement of science (aaas), retiring president, geneticist h. bentley glass, cheered legalization of abortion in new york, envisioned future pregnant women required government abort xyy sex deviants . mischaracterization of xyy genetic condition incorporated high school biology textbooks , medical school psychiatry textbooks, misinformation still persists decades later.

in late 1960s , 1970s, screening of consecutive newborns sex chromosome abnormalities undertaken @ 7 centers worldwide: in denver (jan 1964–1974), edinburgh (apr 1967–jun 1979), new haven (oct 1967–sep 1968), toronto (oct 1967–sep 1971), aarhus (oct 1969–jan 1974, oct 1980–jan 1989), winnipeg (feb 1970–sep 1973), , boston (apr 1970–nov 1974). boston study, led harvard medical school child psychiatrist stanley walzer @ children s hospital, unique among 7 newborn screening studies in screened newborn boys (non-private-ward newborn boys @ boston hospital women) , funded in part grants nimh center studies of crime , delinquency.

in 1973, child psychiatrist herbert schreier @ children’s hospital told harvard medical school microbiologist jon beckwith of science people thought walzer’s boston xyy study unethical; science people investigated study , filed complaint harvard medical school study in march 1974. in november 1974, science people went public objections boston xyy study in press conference , new scientist article alleging inadequate informed consent, lack of benefit (since no specific treatment available) substantial risk (by stigmatization false stereotype) subjects, , unblinded experimental design not produce meaningful results regarding subjects behavior. in december 1974, harvard standing committee on medical research issued report supporting boston xyy study , in march 1975, faculty voted 199–35 allow continuation of study. after april 1975, screening of newborns discontinued—changes informed consent procedures , pressure additional advocacy groups, including children s defense fund, having led discontinuation of last active u.s. newborn screening programs sex chromosome abnormalities in boston , denver.

in august 1976, science published retrospective cohort study educational testing service psychologist herman witkin , colleagues screened tallest 16% of men (over 184 cm (6 0 ) in height) born in copenhagen 1944–1947 xxy , xyy karyotypes, , found increased rate of minor criminal convictions property crimes among sixteen xxy , twelve xyy men may related lower intelligence of criminal convictions, found no evidence xxy or xyy men inclined aggressive or violent.

1980s , later

the march of dimes sponsored 5 international conferences in june 1974, november 1977, may 1981, june 1984, , june 1989 , published articles conferences in book form in 1979, 1982, 1986, , 1991 7 longitudinal prospective cohort studies on development of on 300 children , young adults sex chromosome abnormalities identified in screening of 200,000 consecutive births in hospitals in denver, edinburgh, new haven, toronto, aarhus, winnipeg, , boston 1964 1975. these 7 studies—the unbiased studies of unselected individuals sex chromosome abnormalities—have replaced older, biased studies of institutionalized individuals in understanding development of individuals sex chromosome abnormalities.

in may 1997, nature genetics published discovery ercole rao , colleagues of x/y chromosome pseudoautosomal region (par1) shox gene, haploinsufficiency of leads short stature in turner syndrome (45,x). subsequently postulated increased gene dosage of 3 shox genes leads tall stature in sex chromosome trisomies 47,xxx, 47,xxy, , 47,xyy.

in july 1999, psychological medicine published case-control study royal edinburgh hospital psychiatrist michael götz , colleagues found increased rate of criminal convictions among seventeen xyy men identified in edinburgh newborn screening study compared above-average-iq control group of sixty xy men, multiple logistic regression analysis indicated mediated through lowered intelligence.

in june 2002, american journal of medical genetics published results longitudinal prospective cohort denver family development study led pediatrician , geneticist arthur robinson, found in fourteen prenatally diagnosed 47,xyy boys (from high socioeconomic status families), iq scores available 6 boys ranged 100–147 mean of 120. eleven of fourteen boys siblings, in 9 instances siblings stronger academically, in 1 case subject performing equal to, , in case superior to, siblings.