Smith-Lemli-Opitz Syndrome (SLOS)
23-611: Opitz is a surname. Notable people with the surname include: John M. Opitz , American geneticist Martin Opitz , German poet Lucille Opitz , German speed skater Mark Opitz , Australian record producer Rudolf Opitz , German lithographer Simone Opitz , East German cross country skier Reinhard Opitz , German left-wing intellectual and social scientist Franz K. Opitz , Swiss painter Ted Opitz , Canadian politician See also [ edit ] Smith–Lemli–Opitz syndrome ,
46-464: A joint review on the biology of sex determination and sex differentiation in animals (Witschi, Opitz, 1961). While attending medical school, Opitz was engaged in a variety of other research projects including: glucose metabolism (with N. Halmi), prostate cancer (R. Flocks), and hereditary hematuria (W.W. McCrory). Others who influenced Opitz while in medical school include Hans Zellweger and Jacqueline A. Noonan. He completed his medical degree in 1959 at
69-478: A metabolic and developmental disorder Opitz trigonocephaly syndrome , type of cephalic disorder Opitz–Kaveggia syndrome , genetic syndrome Autosomal dominant opitz G/BBB syndrome , disorder caused by the deletion of a small piece of chromosome 22 [REDACTED] Surname list This page lists people with the surname Opitz . If an internal link intending to refer to a specific person led you to this page, you may wish to change that link by adding
92-679: A middle-class family. His father died of tuberculosis while Opitz was still young, a disease which he also contracted and, caused him to spend 14 months in a sanatorium. After seven years of separation, he rejoined his mother in 1947 in Nuremberg where she worked as an interpreter for the US occupation forces during the war-crimes trials. They immigrated to the United States in 1950, eventually settling in Iowa City where Opitz' uncle, Hans Koelbel,
115-452: A wide spectrum of genetic anomalies with focuses on sex determination and sex differentiation, skeletal dysplasias, mental retardation, human malformations and syndromes and the relationship between evolution and development. Opitz' work on identifying the physical and biological symptoms of genetic disorders led to the discovery of the "Opitz syndromes" and created an impetus for important basic science advances. These include documentation of
138-469: Is often called Patau syndrome . It is also known as Bartholin-Patau syndrome, since the clinical picture associated with trisomy 13 was described by Thomas Bartholin in 1656. At the time, laboratory techniques were unable to distinguish between chromosomes of similar size, so chromosomes were grouped into seven groups by size, lettered A through G. Chromosomes 13 through 15 were in group D, so Patau originally named his eponymous syndrome "trisomy D". Patau
161-732: The "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome , Bohring–Opitz syndrome , and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics , and was a cofounder of the American College and American Board of Medical Genetics. John M. Opitz was born in Hamburg, Germany , on August 15, 1935, to
184-527: The DGofH (German Society of Hum Genet) John M. Opitz (August 15, 1935 – August 31, 2023) was a German-American medical geneticist and professor at the University of Utah School of Medicine . He is best known for rediscovering the concept of the developmental field in humans (first enunciated by Hans Spemann in amphibians) and for his detection and delineation of many genetic syndromes, several now known as
207-525: The Department of Medical Genetics at Shodair Children's Hospital and as an adjunct professor in Biology, History and Philosophy, Medicine, and Veterinary Science at Montana State University. In 1994 he was appointed Professor of Medical Humanities. In Montana, Opitz continued research in genetic syndromes, often collaborating with Phil D. Pallister, leading to the discovery of several syndromes including
230-656: The Pallister-Hall, KBG, and Pallister-Killian syndromes. This collaboration also led to the discovery of the first human X-autosome translocation which, according to McKusick, was a jumping off point for the era of chromosome mapping. Prior to leaving Montana, Opitz traveled to Germany to become the first visiting professor of the Hanseatic University Foundation of the University of Lübeck, Department of Genetics. In 1997, Opitz joined
253-626: The University of Iowa, also a rotating internship and his first year of pediatric residency. After completion of residency, Opitz searched for fellowship opportunities. He had followed closely the work of Patau, Inhorn and Smith in Madison on human aneuploidy and so, after application and acceptance, July 1, 1961, saw Opitz at the University of Wisconsin where he completed residency, the last 6 months as pediatric chief resident. He completed his fellowship (1962-1964) in Medical Genetics under
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#1732773177913276-492: The approach of Witschi's retirement from the University of Iowa just previous to his graduation, Opitz wondered where he would go next as his previous plan had been to complete a PhD under Witschi. However, with some prodding from his mother, he was reluctantly persuaded to attend medical school at the University of Iowa. His initial lack of interest dissipated as he was immersed in the world of clinical medicine. He continued his work with Witschi while in medical school, completing
299-491: The cytogeneticist Klaus Patau and the pediatrician-dysmorphologust David Weyhe Smith . Smith introduced him to the University of Wisconsin Children's Hospital where he began his work on the physical and biological manifestations of syndromes. He also gained experience in the evaluation of normal developmental variability by examining the newborn infants at St. Mary's Hospital in Madison for Smith's study of minor anomalies. It
322-426: The developmental field concept linking human evolution, genetics, and development. The discovery by Hans Spemann in 1922 of the "organizer" identified the "primary" field. Clinically, radius dysgenesis was defined as a developmental field defect on the basis of causal heterogeneity. Developmental fields are now known as the basic morphogenetic units of the vertebrate embryo. From a phylogenetic perspective, field theory
345-662: The faculty at the University of Utah School of Medicine as a Professor of Pediatrics in the division of Medical Genetics and also as a member of the clinical staff at the Children's Medical Center. He holds adjunct appointments in the Departments of Human Genetics, Pathology, and Obstetrics and Gynecology. He was an active participant in the fetal genetic pathology program in the Division of Pediatric Pathology at Primary Children's Medical Center until 2015. Opitz' research and interests, in addition to clinical genetics, have covered
368-442: The person's given name (s) to the link. Retrieved from " https://en.wikipedia.org/w/index.php?title=Opitz&oldid=930083369 " Categories : Surnames German-language surnames Hidden categories: Articles with short description Short description is different from Wikidata All set index articles John M. Opitz Montana State University Shodair Hospital Pathology Medal of Honor of
391-582: The role of cholesterol in vertebrate development after description of the Smith-Lemli-Opitz syndrome or of the role of the MID1 gene in early ontogeny following discovery of the Opitz GBBB syndrome(s). An abbreviated list of the syndromes to which Dr. Opitz has contributed or for which he was the first descriptor include: In biology, Opitz' most important contribution was the reintroduction of
414-458: Was Professor of Cello and Chamber Music at the University of Iowa. It was at the age of 15 that his uncle introduced him to Emil Witschi, an internationally acclaimed embryologist, endocrinologist, and zoologist at the University of Iowa, who fanned Opitz' interest in embryology, genetics and evolution. After completing high school, Opitz studied Zoology at the University of Iowa under Witschi's tutelage, receiving his bachelor's degree in 1956. With
437-550: Was a German-born American geneticist . He received his PhD from the University of Berlin in 1936, worked from 1938 to 1939 in London, and then returned to Germany, where he worked at the Kaiser Wilhelm Institute for Biology until 1947. He emigrated to the United States in 1948 and obtained American citizenship. In 1960 he first reported the extra chromosome in trisomy 13 . The syndrome caused by trisomy 13
460-708: Was able to establish the Wisconsin Clinical Genetics Center in 1974 as well as a fetal/pediatric pathology and developmental pathology program in association with Dr. Enid Gilbert-Barness. In 1979, at the invitation of Philip D. Pallister, Opitz left the University of Wisconsin to become the Director of the Shodair-Montana Regional Genetic Service Program in Helena, Montana. This program included such services as cytogenetics and fetal genetic pathology. Later he served as chair of
483-443: Was during the 60's that Opitz set the groundwork on the scientific advances for which he would be best known- the discovery and definition of multiple congenital anomalies syndromes through the recognition of links between pediatric anomalies and heredity. After completion of his fellowship, Opitz was appointed Assistant Professor of Medical Genetics and Pediatrics at the University of Wisconsin. He spent 18 years at UW-Madison where he
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#1732773177913506-638: Was expanded in recent years to "modularity". In 1976, Opitz founded and became Editor-in-Chief of the American Journal of Medical Genetics. Opitz retired as editor-in-chief of the AJMG in 2001 and was succeeded by John C. Carey. Opitz still serves as an emeritus editor for the journal. Opitz has written over 500 papers and textbook chapters and edited 12 books. Honorary membership: Honorary degrees (h.c.): Awards and Recognition: Klaus Patau Klaus Patau (30 September 1908 – 30 November 1975; born Klaus Pätau ; pronounced [ˈklaʊs ˈpɛtaʊ] )
529-465: Was in the Department of Genetics at the University of Wisconsin–Madison , as was his wife and collaborator, the Finnish cytogeneticist Eeva Therman (1916–2004). John M. Opitz completed his fellowship under Patau. His son, Peter Hinrich Patau (1942—2017), was a journalist who contributed to several Wisconsin publications. This biographical article related to a physician in the United States
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