Internat'ional G Enet'ics
Total Page:16
File Type:pdf, Size:1020Kb
Internat'ional S emtnar on Medtcal G enet'ics August3L - September3, 1966 H.01 U 1967 19227 Hist. Provided by the Maternal and Child Health Library, Georgetown University I I I I Reproducedwith permission by the U.S. DEPARTMENT OF HEALTH, EDUCATION, AND VELFARE, Social and Rehabilita- tion Service, Children's Bureau, from The AlobomoJournol of MedicolSciences, Vol. 3, No. 4, October 1966,(pp. 351-518,530)- Reproducedby permissionfrom the ReynoldsHistorical Library' the University of Alabamaat Birmingham provided by the Maternal and chitd Health Library, Georgetownuniversity ,i li INTERI\ATIOI\AL SEMII\AR Ii on 123 MEDICAL GEI\ETICS August 31 September3, 1966 o University of Alabama Medical Center Birmingham, Alabama o l Program Directors: f)r. Wayne H. Finley, Dr. Sara C. Finley 2 Sponsors:Division of Continuing Medical Education, Medical College of Alabafira; Post- sraduate Education, IJniversity of Alabama School of Dentistry; The Children's flospital, Birmingham, Alabama 3 Support: Children's Bureau, U. S. Department, of Health, Education, and Welfare, Project 413 university provided by the Maternal and child Health Library, Georgetown (ontents 352 > Welcome, S. R. Hill, Ir. 353 > Opening remarks, loseph F.Volker 354 > Welcome, Charles A. McCallum, lr. 355 > Genetics in expanding health programs for mothers ancl children. Alice D. Chenowetlt 359 > Biochemical genetics in medicine. Arno C. Motulsky 370 > Cleft lip and cleft palate in Iceland. Palmi itloller and loltn Dunbar 373 > Cenetics studies in human dental caries. Sidneg Finn 376 > Some old and new data on the genetics of human populations. L. L. Caoalli-Sforza 382 > Medical and dental findings in the Brandvrvine Isolate. CarI J. Witkop, Ir., Clnrles I. MacLean, PauI l. Schntid{, Joseph L. Henry 404 > Genetical investigations in mental retardation. /. A. Bii6k 408 > Clinical genetics at a population level. The ethnicitv of cliseasein the United States. ViAor A. McKusick 425 > Gene dosage effects in man. l6r6me Leieune 432 > Dermatoglyphics and chromosomes. lrene A. Uchida 435 > Reflections on 20 years experience of genetic counselling. J, A. Fraser Roberts 440 > Panel l: Gene function 447 > Panel 2: Diseases at the molecular level 456 > Panel 3: Diagnosis and management of metabolic abnoln-ralities 473 > Panel 4: Epidemiology of selected genetic diseases 483 > Panel 5: Clinical cytogenetics 496 > Panel 6: Indications for chromosome analyses 517 > Closing remarks, Joseph F. Volker -:- University provided by the Maternal and Child Heatth Library, Georgetown Welcome S. R. Hill, Jr., M.D.* The faculty and the student body of the University of ,\labama l{eclical Center join n'ith the organizing committee to welcome all of you to this International Seminar on NIed- ical Genetics and to add to this welcome we would like to ask the Vice Presiclent for Health ,tffairs at the University of Alabama N{edical Center, Dr. .}oseph F. Volker, to speak to )'ou GUESf }'ACULTY FACT]LTY Jan A. Bddk, M.D., Ph.D. Joseph F. Volker, D.D.S., Ph.D. L. L. Cavalli-Sforza. M.D. S. Richardson Hill, Jr., M.D. Alice D. Chenoweth, M.D. CharlesA. McCallum,Jr., D.M.D., \,f.D. Valerie A. Cowie, M.D., D.P.M. Samuel B. Barker, Ph.D. Eric Engel, M.D. John B. Dunbar, D.M.D., Dr. P.H. Richard A. Finch, Nf.D. Margaret S. Klapper, N{.D. Frederick Hecht, M.D. Edwin M. Speed, D.N[.D. F. John Jackson, M.D. Charles A. Alford, Jr., N{.1). Cecil Jacobson, M.D. J. Claude Bennett, M.D. Robert S. Kroorh, M.D., Ph.D. Hcrschel P. Bentley, Jr., \I.I). Lejeune, Jerdme M.D., Ph.D. Charles E. Buttcnvorth, Jr., N{.1). Lillian Lockhart, M.D. CleralclL. Carlson, Ph.D. Arno G. Motulsky, M.D. Ceorge Cassady,N{.D. Ernest E. McCoy, M.D. Sarah F. Davis, trI.D. 'Ihomas Victor A. McKusick, M.D. W. Feary, Ph,D. Nfarshall W. Nirenberg, Ph.D. Sara C. Finley, M.D. William L. Nyhan, M.D., ph,D. Wayne H. Finley, Ph.D., \I.D. Donough O'Brien, M.D., F.R.C.p. Sidney B. Finn, D.II.D. Richmond S. Paine, M.D. Ralph Gilmore, D.M.D. J. A. Fraser Roberts, M.D., D.Sc.,F.R.C.p., II.R.S. Clarence E. Klapper, Ph.D. David W. Smith, M.D. Emmanuel Margolis, Nf.D. Robert L Summitt, N{.D. Russell S. McMillan, D.D.S.,Dr. P.H. Irene A. tlchida, Ph.D. Pcter B. Peacock,D.P.H., D.I.H., D.T.Nf.&H. Carl J. Witkop, Jr., D.D.S. Carlyn C. Tucker, I{.D. Hans Zellrveger,M.D. K. Lemone Yiclcling, \f .l). +Dean, Medical College of Alabama. _----a University Provided bY the Maternal and Child Health Library, Georgetown Opening Remarks losephF. Yolker,D.D.S., Ph.D.# I would like to add my welcome to that of Dean Hill. \Vhenever I have a captive aucli- ence I behave like the fablecl scorpion who wished to cross a river but was aware of his limi- tations as a swimmer. While he was reflecting on his dilemma, along came a turtle who obviously was a talented mariner. The scorpion very promptly said to the turtle, "Will you carry me over the river?" The turtle looked at him and replied, "Do y,ou think I'm crazy? The first thing you'll clo if you get close is to bite and that will be the end of me." The scorpion pleaded, "No, I just want to get across the river. Please take me." The turtle heeded his request, and they started across. As they came to the middle of the river, the scorpion reachecl down ancl bit the turtle on the neck. The turtle, aware he was dyine, looked up at the scorpion ancl asked, "Why did you do it?" To rvhich the scorpion replied, "I can't help being the way I am." And as an administrator I can't resist the temptation to say a few words about the University and the Meclical Center. Obviously we are a very young medical center, and in terms of years we are a rela- tively young University. But like all universities, we have great aspirations. We recognize that as the university flourishes and gives leadership to the community, things so well. When this is not the case, the state and the nation suffer. Wherever a strong university system exists there is an unusual capacity to survive ad- versity. The rebuilding of Germany and .fapan after World War II give excellent support to this thesis. Conversely, the American people are very much aware that you can make all kinds of resources available to a country and it will come to naught if there is no intellec- tual focus to implement reclevelopment programs. We are hopeful, of course, that this University will be able to achieve competency in the traditional areas of teachin€i, research, ancl service. \4/e have macle, I believe, a modest beginning and have great hopes for the future. Your presence here is a stimulus to us and a reminder of what universities can do indiviclualll' ancl collectivelr'. Since it is an international symposium, I thought it might be appropriate to quote I'rom an essayby A. V. Hill, the physiologist, who said: It needs no historian to recall how learning, scholarship ancl art, on the one hanrl, and natural philosophy ancl technology, on the other, have from early claysbeen largely international in their stluggles, these were the only common interests of mankincl. It is pleasant to remember how philosophers and scholars coulcl, usually without hinclrance, even in time of war, continue uninterrupted their irrtercotrrse with other countries. A document now more than seven hundred years olcl recorcls the presence at Paclua o[ French, English, Norman, Provenqal, Spanish, and Catalan students. Later at Paclua twenty-two "nations" were represented, twelve from Italy itself, ten from beyond tl-re Alps. In the fifteenth century there were about one hundred French stuclents there, nearly as many English and Scottish, over three hundred German. In spite of all diffi- culties of transport and communication there was a very real international sensein the lrumane pursuit of learning. Hacl medicine, scholarship, and science had no other gifts GeorgetownUniversity Provided bY the Maternal and Child Health Library, 354 VOLKER Ala. J. Med.Sci. at all to offer to mankind, their habit of transcending language, nationality, and prej- udice would have made them, more perhaps than anything else, worthwhile. (A. V. Hill. The Ethical Dilemma of Scienceand Other Writings. New York, The Rocke- feller Institute Pressin associationwith Oxford University Press,1960. p 213). I hope these thoughts may serve as a keynote for this conference.Thank you. Welcome ChorlesA. It is my distinct pleasure on behalf of tistry should have a vital interest in the area the faculty, administration, and studentsof of growth and development, and particu- the University of Alabama School of Den- larly the area of genetics. Even though the tistry to extend to you a cordial welcome Schoolof Dentistry in terms of years,might to the International Seminar on Medical be considered the embryo of the Medical Genetics. The University is proud to be Center, our interest in the field of genetics the host to the array of talent that has is long standing. We hope that through the gathered here for the purpose of sharing cooperative efforts of the scientific com- their scientific accomplishmentsin this most munity that important information from important area with their confreres. this field will permit the solution of many of the elusive problems of oral diseaseand It is appropriate that the School of Den- malformations. tl)can of the lkhool of Dentistrv, provided by the Maternal and Child Health Library, Georgetown University GeneticsIn ExpandingHealth Programsfor Mothersand Childrenl On behalf of the Children's Bureau, I in genetics,i.e.