Oswaldo Frota-Pessoa, Brazilian geneticist (Rio de Janeiro 30 March 1917 – São Paulo 24 March 2010)

DISEASES

With A. Richieri Costa & S.M. Garcia da Silva. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. J. Med. Genet. 21(2):103-7, 1984

With A. Richieri Costa. Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters. Hum. Hered. 29(5):292-7, 1979

With C. Penha-Serrano, D. Klein & M. Zatz. A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance. J. Genet. Hum. 19:337-54, 1971

With J.A. Escalante & H. Grunspun. Severe sex-linked mental retardation. J. Genet. Hum. 19:137, 1971 (first to note macro-orchidism with X-linked mental retardation)

METHODS

Proposed a method for assessing the mutation rate for detrimental recessive genes in man

With P.H. Saldanha. The rate of spontaneous sex-linked mutations and doubling dose in man. Annals of Human Genetics 24(4):367-73, 1960

With C.A. Moreira Filho. A method for detecting sex diferences in mutation rates of sex-linked human genes. Excerpta Med. Found. 32:173, 1961

Proposed an indirect method for evaluating the concealed genetic load expressing itself before birth

Lethal equivalents acting before birth. Am. J. Human Genet. 18(1):57-61, 1966

A technique for evaluating the reactivity of human smell lymphocytes in culture. Cien. Cult. 27:1233-6, 1975

Presented the relationship between the penetrance and the recurrence risk for sibs of isolated cases of autosomal dominant conditions with incomplete penetrance

With P.A. Otto & J.R. Plaza. The variation of recurrence risks with penetrance for isolated cases of autosomal dominant conditions. J. Hered. 67(4):256, 1976

Developed a procedure for identifying human Y chromosome using staining techniques

With C.L. Borovik & N.S. Loghin Grosso. The human Y chromosome: its routine identification and variability. Rev. Bras. Pesq. Med. Biol. 10(3):159-73, 1977

Developed a methodology allowing the estimate of risks, heterozygosity and manifestation of Huntington ‘s chorea within preestablished periods for individuals of any age

With N. Martello & J.L. Santos. Risks of manifestation of Huntington chorea. J. Genet. Hum. 26(1):33-53, 1978

With A. Rogatko & C.A. Pereira. A Bayesian method for the estimation of penetrance: application to mandibulo facial and frontonasal dysostoses. Am. J. Med. Genetics 24(2):231-46, 1986

Presented general formulae for several common situations in the genetic counseling of heterogeneous disorders

With M.C. Braga & P.A. Otto. Calculation of recurrence risks for heterogeneous genetic disorders. Am. J. Med. Genet. 95(1):36-42, 2000

OTHERS

Described 32 new dipteran species (1947-54)

Papers in important periodicals

With P.A. Otto, S. Kasahara & H.G. Nunesmaia. Risk of 45,X karyotype in offspring of Turner’s syndrome patients. Lancet 2 (8031):257, 1977

With N.R. Ferreira. Trisomy after colchicines therapy. Lancet 1 (7606):1161-2, 1969

With E.L. Gomes & T.R. Calicchio. Christmas factor: dosage compensation and the production of blood coagulation factor IX. Science 139:348, 1963

HONORS

Consultant, World Health Organization Expert Committe on Human Genetics (1961-86)

UNESCO International Kalinga Prize for Popularization of Science (1982)