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Research Article| Volume 4, ISSUE 4, P835-844, December 1984

The Use of Cytogenetic Techniques for the Diagnosis of Endocrine Diseases

  • Lawrence P. Gordon
    Correspondence
    Corresponding author: Department of Pathology, Crouse Irving Memorial Hospital, 736 Irving Avenue, Syracuse, New York 13210
    Affiliations
    Assistant Professor, Department of Pathology, State University of New York, Upstate Medical Center; Staff Pathologist, Department of Pathology, Crouse Irving Memorial Hospital, Syracuse, New York
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      This article reviews the use of cytogenetic techniques in the diagnosis of endocrine disorders. Topics covered are sex chromosome aneuploidies, conditions with ambiguous genitalia, and repeated fetal wastage. Also included is a brief discussion of cytogenetic methods and structural aberrations.
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      References

        • Barr M.L.
        • Bertram E.G.
        A morphological distinction between neurones of the male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis.
        Nature. 1949; 163: 676-677
        • Blanchard M.G.
        • Josso N.
        Source of the anti-mullerian hormone synthesized by the fetal testis: Mullerian-inhibiting activity of fetal bovine Sertoli cells in tissue culture.
        Pediatr. Res. 1974; 8: 968-971
        • Carr D.H.
        Chromosomes and abortion.
        Adv. Hum. Genet. 1971; 2: 201-257
        • de la Chapelle A.
        Sex chromosome abnormalities.
        in: Emery A.E. Rimoin D.L. Principles and Practice of Medical Genetics. Churchill Livingstone, New York1983: 193-215
        • Evans H.J.
        Chromosome anomalies among livebirths.
        J. Med. Genet. 1977; 14: 309-312
        • Ferguson-Smith M.A.
        Abnormal gonadal differentiation in XY females and XX males.
        Birth Defects. 1971; 7: 204-209
        • Fichman K.
        • Migeon B.
        • Migeon C.
        Genetic disorders of male sexual differentiation.
        Adv. Hum. Genet. 1980; 10: 333-377
        • FitzSimmons J.
        • Wapner R.J.
        • Jackson L.G.
        Repeated pregnancy loss.
        Am. J. Med. Genet. 1983; 16: 7-13
        • Ford C.E.
        • Jones K.
        • Polani P.
        • et al.
        A sex chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome).
        Lancet. 1959; 1: 711-713
        • Ford J.H.
        • Callen D.F.
        • Jahnke A.B.
        • et al.
        Within pair differences of human chromosome 9 C-bands associated with reproductive loss.
        Hum. Genet. 1982; 61: 360-363
        • Goldman B.
        • Polani P.E.
        • Daker M.G.
        • et al.
        Clinical and cytogenetic aspects of X-chromosome deletions.
        Clin. Genet. 1982; 21: 36-52
        • ISCN (1978)
        An International System for Human Cytogenetic Nomenclature.
        Birth Defects. 1978; 14: 309-404
        • Jacobs P.
        The incidence and etiology of sex chromosome abnormalities in man.
        Birth Defects. 1979; 15: 3-14
        • Jones H.
        Nonadrenal female pseudohermaphroditism.
        Pediatr. Adolesc. Endocrinol. 1981; 8: 65-79
        • Josso N.
        Physiology of sex differentiation.
        Pediatr. Adolesc. Endocrinol. 1981; 8: 1-13
        • Kajii T.
        • Ohama K.
        • Niikawa N.
        • et al.
        Banding analysis of abnormal karyotypes in spontaneous abortion.
        Am. J. Hum. Genet. 1973; 25: 539-547
        • Klinefelter H.F.
        • Reifenstein E.C.
        • Albright F.
        Syndrome characterized by gynecomastia, aspermatogenesis without α-Leydigism and increased excretion of follicle-stimulating hormone.
        J. Clin. Endocrinol. 1942; 2: 615-627
        • Levine L.S.
        • Zachmann M.
        • New M.I.
        • et al.
        Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
        N. Engl. J. Med. 1978; 299: 911-915
        • Michels V.V.
        • Medrano C.
        • Venne V.L.
        • et al.
        Chromosome translocations in couples with multiple spontaneous abortions.
        Am. J. Hum. Genet. 1982; 34: 507-513
        • New M.I.
        • Levine L.S.
        Adrenal hyperplasia in intersex states.
        Pediatr. Adolesc. Endocrinol. 1981; 8: 51-64
        • Otto P.G.
        • Vianna-Morgante A.M.
        • Otto P.A.
        • et al.
        The Turner phenotype and the different types of human X isochromosome.
        Hum. Genet. 1981; 57: 159-164
        • Palmer C.G.
        • Reichmann A.
        Chromosomal and clinical findings in 110 females with Turner syndrome.
        Hum. Genet. 1976; 35: 35-49
        • Pearson P.L.
        • Bobrow M.
        Technique for identifying Y chromosomes in human interphase nuclei.
        Nature. 1970; 226: 78-81
        • Saenger P.
        Abnormal sex differentiation.
        J. Pediatr. 1984; 104: 1-17
        • Sanger R.
        • Tippett P.
        • Gavin J.
        • et al.
        Xg groups and sex chromosome abnormalities in people of northern European ancestry: An addendum.
        J. Med. Genet. 1977; 14: 210-213
        • Scully R.E.
        Neoplasia associated with anomalous sexual development and abnormal sex chromosomes.
        Pediatr. Adolesc. Endocrinol. 1981; 8: 203-217
        • Simpson J.L.
        Male pseudohermaphroditism: Genetics and clinical delineation.
        Hum. Genet. 1978; 44: 1-49
        • Simpson J.L.
        Repeated suboptimal pregnancy outcome.
        Birth Defects. 1981; 17: 113-142
        • Simpson J.L.
        • Blagowidow N.
        • Martin A.O.
        XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.
        Hum. Genet. 1981; 58: 91-97
        • Simpson J.L.
        • Christakos A.C.
        • Horwith M.
        • et al.
        Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data.
        Birth Defects. 1971; 7: 215-228
        • Simpson J.L.
        • Elias S.
        • Martin A.O.
        Parental chromosomal rearrangements associated with repetitive spontaneous abortions.
        Fertil. Steril. 1981; 36: 584-590
        • Stenchever M.A.
        • Parks K.J.
        • Daines T.L.
        • et al.
        Cytogenetics of habitual abortion and other reproductive wastage.
        Am. J. Obstet. Gynecol. 1977; 127: 143-150
        • Stoll C.
        Cytogenetic findings in 122 couples with recurrent abortions.
        Hum. Genet. 1981; 57: 101-103
        • Therman E.
        • Denniston C.
        • Sarto G.E.
        • et al.
        X chromosome constitution and the human female phenotype.
        Hum. Genet. 1980; 54: 133-143
        • Tho S.P.T.
        • Byrd J.R.
        • McDonough P.G.
        Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome.
        Fertil. Steril. 1982; 38: 688-694
        • Turner H.H.
        A syndrome of infantilism, congenital webbed neck and cubitus valgus.
        Endocrinology. 1938; 23: 566-574
        • VanNiekerk W.A.
        True hermaphroditism.
        Pediatr. Adolesc. Endocrinol. 1981; 8: 80-99
        • Ward B.E.
        • Henry G.P.
        • Robinson A.
        Cytogenetic studies in 100 couples with recurrent spontaneous abortions.
        Am. J. Hum. Genet. 1980; 32: 549-554
        • Winsor E.J.T.
        • Palmer C.G.
        • Ellis P.M.
        • et al.
        Meiotic analysis of a pericentric inversion, inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7.
        Cytogenet. Cell Genet. 1978; 20: 169-184
        • Wolf U.
        Genetic aspects of H-Y antigen.
        Hum. Genet. 1981; 58: 25-28
        • Yunis J.J.
        • Chandler M.E.
        Cytogenetics.
        in: Henry J.B. Clinical Diagnosis and Management by Laboratory Methods. 16th ed. W. B. Saunders Co., Philadelphia1979: 801-856
        • Zenzes M.T.
        • Muller U.
        • Aschmoneit I.
        • et al.
        Studies on H-Y antigen in different cell fractions of the testis during pubescence: Immature germ cells are H-Y antigen negative.
        Hum. Genet. 1978; 45: 297-303