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On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)*

Published online by Cambridge University Press:  01 August 2014

C. Zara ,
A. Mannini  and
U. Magrini
C. Zara
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica
A. Mannini
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica
U. Magrini
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica

Summary

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Clinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 4 , September 1966 , pp. 371 - 385
Copyright
Copyright © The International Society for Twin Studies 1966

Footnotes

*

Comunicazione preventiva sul presente caso è stata fatta alla Società Lombarda di Ostetricia e Ginecologia nell'adunanza del 16 dicembre 1965, in Milano.

References

Bibliografia

Becker, K. L., Abert, A. (1963). Ovarian dysgenesis due to deletion of the X chromosome. Proc. Mayo Clin., 38: 389.Google ScholarPubMed
Bergada, C. et al. (1962). Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis; relation to theories of sex differentiation. Acta Endocr., 40: 493.Google ScholarPubMed
Cavallero, C., Chiappino, G. (1962). Histochemistry of steroid-3β-ol-dehydrogenase in the human adrenal cortex. Experientia, 18: 119.CrossRefGoogle ScholarPubMed
Clerkin, E. P., Meismer, L. (1964). Gonadal dysgenesis: a review and report of a case with an unusual chromosomal aberration. Lahev Clin. Bull., 13: 181.Google Scholar
Cohen, R. B. (1959). Histochemical localization and metabolic significance of glucose-6-phosphate dehydrogenase system in adrenal cortex. Proc. Soc. Exp. Biol. Med., 101: 405.Google Scholar
Cohen, P. E. et al. (1961). A probable partial deletion of the Y chromosome in an intersex patient. Lancet, ii: 294.Google Scholar
Deane, H. W., Rubin, B. L. (1965). Identification and control of cells that synthesize steroid hormones in the adrenal glands, gonads and placentae of various mammalian species. Arch. Anat. Micr. Morph. Exp., 54: 49.Google Scholar
De Grouchy, J. et al. (1961). Further abnormalities of the X chromosomes in primary amenorrhea or in severe oligomenorrhea. Lancet, ii: 777.Google Scholar
De La Chapelle, A. (1962). Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocr., 40 (suppl.): 61.Google Scholar
Del Castillo, E. B. et al. (1947). Syndrome of rudimentary ovaries with estrogenic insufficiency and increase in gonadotrophins. J. Clin. Endocr., 7: 385.Google Scholar
Destine, M. L., Monteleone, P. M. (1965). XO/X-plus-fragment mosaicism. Lancet, ii: 746.Google Scholar
Ferguson-Smith, M. A. (1965). Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet., 2: 142.Google Scholar
Ferguson-Smith, M. A., et al. (1964). Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner's syndrome. Cytogenetics, 3: 355.Google Scholar
Fermer, P. et al. (1962). Abnormal sexual development associated with sex chromome mosaicism. Pediatrics, 29: 703.Google Scholar
Field, J. B. et al. (1960). Studies of pathways of glucose metabolism of endocrine tissue. Endocrinology, 67: 801.Google Scholar
Fraccaro, M. et al. (1962). Triple chromosomal mosaic in a woman with clinical evidence of masculin-isation. Lancet, 1: 1379.Google Scholar
Fraccaro, M. et al. (1966). Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Ann. Hum. Genet., 29: 281.CrossRefGoogle Scholar
Goldberg, B. et al. (1964). A histochemical study of substrate specificity for the steroid 3β-ol dehydrogenase and isomerase system in human ovary and testis. J. Histochem. Cytochem., 12: 880.CrossRefGoogle Scholar
Gordan, G. S. et al. (1955). A syndrome of gonadal dysgenesis: a variety of ovarian agenesis with androgenic manifestations. J. Clin. Endocr., 15: 1.CrossRefGoogle ScholarPubMed
Greenblatt, R. B. et al. (1956). Gonadal dysgenesis with androgenic manifestations in the tall eunuchoid female. J. Clin. Endocr., 16: 235.Google Scholar
Hart, Z. H. et al. (1965). A sex chromatin negative individual with chromosomes (XO) plus a persistent centric fragment. J. Pediat., 66: 120.Google Scholar
Hartemann, P. et al. (1965). Syndrome de Turner avec mosaique (XO/X et fragment centromérique). Ann. Genet., 8: 50.Google Scholar
Hirsch, M., Neuhauser, G. (1964). An XO mosaic in a case of primary amenorrhea with one stem line including a minute centric fragment. Hum. Chrom. Newsletter, 13: 14.Google Scholar
Jacobs, P. A. et al. (1960). Abnormalities involving the X chromosome in women. Lancet, i: 1213.Google Scholar
Jacobs, P. A. et al. (1961). Cytogenetics studies in primary amenorrhea. Lancet, i: 1183.Google Scholar
Kelly, T. L. et al. (1955). Glucose-6-phosphate dehydrogenase of adrenal tissue. J. Biol. Chem., 212: 545.Google Scholar
Klinger, H. P., Ludwig, K. S. (1957). A universal stain for the sex chromatin body. Stain Techn., 32: 235.CrossRefGoogle ScholarPubMed
Levy, H. et al. (1959). Visualization of steroid-3β-ol-dehydrogenase activity in tissues of intact and hypo-physectomized rats. Endocrinology, 65: 932.Google Scholar
Lindsten, J.: (1963). The nature and origin of X chromosome aberrations in Turner's syndrome. A cytogenetical and clinical study of 57 patients. Almquist & Wiksells. Stockholm, Göteborg, Uppsala.Google Scholar
Lindsten, J., Fraccaro, M. (1965). Turner's syndrome (in stampa).Google Scholar
Lo, M. T., Kobernick, S. D. (1965). XY/XO mosaicism in a phenotypic intersex. Ann. J. Clin. Pathol., 43: 251.Google Scholar
Maeir, D. M. (1965). Species variation in testicular ⊿5-3β-hydroxysteroid dehydrogenase activity: absence of activity in primate Leydig cells. Endocrinology, 76: 463.Google Scholar
Magrini, U., Bertoli, G. (1963). Histological and enzymatic histochemical indices of adreno-cortical steroid production. Research on Steroids. Trans. 1st Meet. Int. Study Group, for Steroid Hormones, Rome.Google Scholar
Marks, P. A., Banks, J. (1960). G-6-PD: relation to pyridine nucleotides and effect of certain hormones. Acta Endocr. (Suppl.), 51: 967.Google Scholar
Moorhead, P. S. et al. (1960). Chromosome preparations of leucocytes cultured from human peripheral blood. Exp. Cell. Res., 20: 613.Google Scholar
Moracci, E. (1962). Ostetricia e Ginecologia. 2a Ed., II: 999, Idelson, Napoli.Google Scholar
Morgagni, G. B. (1765). De sedibus et causis morborum per anatomen indagatis. Venetiis, ex Typographia Remondiniana.Google Scholar
Naujoks, H. et al. (1963). Chromosomenaberrationen bei einen Turner-Fall. Arch. Gynäk., 198: 398.Google Scholar
Pearse, A. G. E. (1960). Histochemistry, theoretical and applied. II Ed. I. & A. Churchill, Ltd., London.Google Scholar
Pennock, C., Whitehead, R. (1965). Turner's syndrome. Lancet, ii: 853.CrossRefGoogle Scholar
Quinodoz, J. M. et al. (1964). Le syndrome de Turner: à propos de six observations. Helv. Med. Acta, 31: 1.Google Scholar
Teter, J. (1963). Morfologia gonad w zespola Turnera. Pat. Pol., 14: 201.Google Scholar
Turner, H. H. (1938). A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrimology, 23: 566.Google Scholar
Vahuru, T. et al. (1961). Gonadal dysplasia and enlarged phallus in a girl with 45 chromosomes plus «fragment». Lancet, i: 1351.Google Scholar