CHROMOSOME ABNORMALITIES IN CERTAIN DISEASES OF MAN
Authors: M A FERGUSON-SMITH, A W JOHNSTON
Journal: Annals of Internal Medicine (1960)

Article1 August 1960CHROMOSOME ABNORMALITIES IN CERTAIN DISEASES OF MANM. A. FERGUSON-SMITH, M.B., Ch.B., A. W. JOHNSTON, M.B., M.R.C.P.M. A. FERGUSON-SMITH, M.B., Ch.B.Search for more papers by this author, A. W. JOHNSTON, M.B., M.R.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-53-2-359 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptChromosomes, as the carriers of the genes which transmit hereditary characteristics, have always excited attention among biologists. In the late nineteenth century it became clear that each species had a constant number of chromosomes, and that this number was invariable within the species. Attempts were made to determine the chromosome number in man by Hansemann as early as 1891,1but no convincing answer to this problem came until 1912, when de Winiwarter reported 47 chromosomes in spermatogonial metaphases.2This continued to be controversial until about 1921, when Painter3appeared to settle all doubts by demonstrating an additional small chromosome, the...Bibliography1. Hansemann D: Über pathologische Mitosen, Virchows Arch. 123: 356, 1891. CrossrefGoogle Scholar2. de Winiwarter N: Études sur la spermatogenèse humaine. II. Heterochromosome et mitoses de l'épithelium seminal, Arch. biol., Paris 27: 91, 1912. Google Scholar3. Painter TS: The Y chromosome in mammals, Science 53: 503, 1921. CrossrefMedlineGoogle Scholar4. TjioLevan JHA: The chromosome number of man, Hereditas 42: 1, 1956. CrossrefGoogle Scholar5. FordHamerton CEJL: The chromosomes of man, Nature, London 178: 1020, 1956. CrossrefMedlineGoogle Scholar6. ChuGiles EHNH: Human chromosome complements in normal somatic cells in culture, Am. J. Human Genet. 11: 63, 1959. MedlineGoogle Scholar7. TjioPuck JHTT: The somatic chromosomes of man, Proc. Nat. Acad. Sc. 44: 1229, 1958. CrossrefMedlineGoogle Scholar8. Bridges CB: Non-disjunction as proof of the chromosome theory of heredity, Genetics 1: 1 and 107, 1916. CrossrefMedlineGoogle Scholar9. Bridges CB: Triploid intersexes in Drosophila melanogaster , Science 54: 252, 1921. CrossrefMedlineGoogle Scholar10. Painter TS: Studies in mammalian spermatogenesis. II. The spermatogenesis in man, J. Exper. Zool. 37: 291, 1923. CrossrefGoogle Scholar11. Mottram JC: The effect of carbon dioxide on the occurrence of non-disjunction in Drosophila, J. Exper. Biol. 7: 370, 1930. CrossrefGoogle Scholar12. FordJacobsLajtha CEPALG: Human somatic chromosomes, Nature, London 181: 1565, 1958. CrossrefMedlineGoogle Scholar13. Ferguson-SmithJohnstonWeinberg MAAWA: Cytogenetics in man. The chromosome complement in true hermaphroditism, Lancet, 1960, in press. CrossrefGoogle Scholar14. LejeuneGautierTurpin JMR: Les chromosomes somatique des enfants Mongoliens, Compt. rend. Acad. d. Sc. 248: 1721, 1959. MedlineGoogle Scholar15. JacobsBaikieCourt BrownStrong PAAGWMJA: The somatic chromosomes in mongolism, Lancet 1: 710, 1959. CrossrefMedlineGoogle Scholar16. BöökFraccaroLindstern JAMJ: Cytogenetical observations in mongolism, Acta paediat. 48: 453, 1959. MedlineGoogle Scholar17. Penrose LS: The biology of mental defect, revised edition, 1954, Sidgwick and Jackson, London. Google Scholar18. Ferguson-SmithLevan MAA: Unpublished observations. Google Scholar19. Carter CO: Current research in mongolism, Brit. M. J. 2: 993, 1956. Google Scholar20. BaikieCourt BrownJacobsMilne AGWMPAJS: Chromosome studies in human leukaemia, Lancet 2: 425, 1959. CrossrefMedlineGoogle Scholar21. Johnston AW: Unpublished observations. Google Scholar22. BarrBertram MLEG: A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellites during accelerated nucleoprotein synthesis, Nature, London 163: 676, 1949. CrossrefMedlineGoogle Scholar23. JacobsStrong PAJA: A case of human intersexuality having a possible XXY sex determining mechanism, Nature, London 183: 302, 1959. CrossrefMedlineGoogle Scholar24. FordPolaniBriggsBishop CEPEJHPM: A presumptive human XXY/XX mosaic, Nature, London 183: 1030, 1959. CrossrefMedlineGoogle Scholar25. FordJonesPolanide AlmeidaBriggs CEKWPEJCJH: A sex chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome), Lancet 1: 711, 1959. CrossrefMedlineGoogle Scholar26. HungerfordDonnellyNowellBeck DAAJPCS: The chromosome constitution of a human phenotypic intersex, Am. J. Human Genet. 11: 215, 1959. MedlineGoogle Scholar27. HarndenArmstrong DGCN: The chromosomes of a true hermaphrodite, Brit. M. J. 2: 1287, 1959. CrossrefMedlineGoogle Scholar28. JacobsBaikieCourt BrownForrestRoyStewartLennox PAAGWMHJRJSB: Chromosomal sex in the syndrome of testicular feminization, Lancet 2: 591, 1959. CrossrefMedlineGoogle Scholar29. AlexanderFerguson-SmithWilkins DSMAL: Unpublished observations. Google Scholar30. Moore KL: Sex reversal in newborn babies, Lancet 1: 217, 1959. CrossrefMedlineGoogle Scholar31. Ferguson-Smith MA: Chromatin-positive Klinefelter's syndrome (primary microrchidism) in a mental deficiency hospital, Lancet 1: 928, 1958. CrossrefMedlineGoogle Scholar32. Ferguson-SmithLennoxMackStewart MABWSJS: Klinefelter's syndrome: frequency and testicular morphology in relation to nuclear sex, Lancet 2: 167, 1957. CrossrefGoogle Scholar33. Ferguson-Smith MA: Unpublished observations. Google Scholar34. NowakowskiLenzParada HWJ: Diskrepanz zwischen Chromatinrebund und genetischen Geschlecht beim Klinefelter Syndrom, Acta endocrinol. 30: 296, 1959. CrossrefMedlineGoogle Scholar35. BoyerFerguson-Smith SHMA: Unpublished observations. Google Scholar36. JacobsBaikieCourt BrownMacGregorMacleanHarnden PAAGWMTNNDG: Evidence for the existence of the human "superfemale," Lancet 2: 423, 1959. CrossrefMedlineGoogle Scholar37. Ferguson-SmithJohnstonHandmaker MAAWS: Cytogenetic studies in man. A syndrome of primary amentia and micro-orchidism associated with an XXXY sex chromosome constitution, Lancet, 1960, in press. CrossrefGoogle Scholar38. Barr ML: Sex chromatin and phenotype in man, Science 130: 679, 1959. CrossrefMedlineGoogle Scholar39. OhnoKaplanKinosita SWDR: Formation of the sex chromatin by a single X-chromosome in liver cells of Rattus norvegicus , Exper. Cell Res. 18: 415, 1959. CrossrefMedlineGoogle Scholar40. KosinIshizahi ILH: Incidence of sex chromatin in Gallus domesticus , Science 130: 43, 1959. CrossrefMedlineGoogle Scholar41. FordJonesMillerMittwochPenroseRidlerShapiro CEKWOJULSMA: The chromosomes in a patient showing both mongolism and the Klinefelter syndrome, Lancet 1: 709, 1959. CrossrefMedlineGoogle Scholar42. TurpinLejeuneLafourcadeGautier RJJM: Aberrations chromosomiques et maladies humaines. La polydysspondylie à 45 chromosomes, Compt. rend. Acad. d. Sc. 248: 3636, 1959. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Baltimore, Maryland*Received for publication April 29, 1960.Presented at the Forty-first Annual Session of The American College of Physicians, San Francisco, California, April 5, 1960.From the Division of Medical Genetics, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.Requests for reprints should be addressed to Malcolm A. Ferguson-Smith, M.B., Ch.B., The Johns Hopkins Hospital, Baltimore 5, Maryland. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAgonadism XY with Familial RecurrenceX0 Karyotype in a phenotypic maleGenetics and the UrologistReferencesReferencesSex Chromatin and Chromosome Analysis in the Diagnosis of Sex AbnormalitiesDOROTHY L. WILLIAMS, M.D., JOHN W. RUNYAN, M.D., F.A.C.P.The Significance of the Sex Chromatin*EndokrinologieHuman Chromosomes in Disease“Mixed” gonadal dysgenesis with gonadoblastoma in situEin XX/XY-Hermaphrodit mit einem ?intratubul�ren Ei? und einem Gonadoblastom (Gonocytom III)Hermaphroditism with “atypical” or “mixed” gonadal dysgenesisSex Chromatin, Chromosomes, and Male InfertilityRecent progress in human chromosome analysis and its relation to the sex chromatinMedical genetics 1960Recent developments in human cytogeneticsHEREDITY AND DISEASE*ALFRED G. KNUDSON JR., M.D., PH.D. 1 August 1960Volume 53, Issue 2Page: 359-371KeywordsBiologistsChromosomal diseasesChromosomal translocationsChromosomesMedical genetics ePublished: 1 December 2008 Issue Published: 1 August 1960 PDF downloadLoading ...