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S. Bergman, Juhan Reitalu, B. Sundén (1963)
Male Pseudohermaphroditism in Two SistersActa Obstetricia et Gynecologica Scandinavica, 42
D. Alexander, M. Ferguson-Smith (1961)
Chromosomal studies in some variants of male pseudohermaphroditism.Pediatrics, 28
P. Ferrier, S. Ferrier, K. Schärer, N. Genton, C. Hedinger, D. Klein (1967)
Multiple chromosome aberrations: XO-XY-XYY mosaicism and a translocation in the same family.Helvetica paediatrica acta, 22 6
A. Morishima, M. Grumbach (1968)
THE INTERRELATIONSHIP OF SEX CHROMOSOME CONSTITUTION AND PHENOTYPE IN THE SYNDROME OF GONADAL DYSGENESIS AND ITS VARIANTS *Annals of the New York Academy of Sciences, 155
Stuart HC Vickers VS (1943)
Anthropometry in the pediatrician's office: Norms for selected body measurements on studies of children of North European stockJ Pediat, 22
Sternberg Wh, Barclay Dl (1967)
Women with male sex chromosomes: the syndromes of testicular feminization and XY gonadal dysgenesis.Journal of the American Medical Women's Association, 22
P. Bowen, C. Lee, C. Migeon, N. Kaplan, P. Whalley, V. McKusick, E. Reinfenstein (1965)
HEREDITARY MALE PSEUDOHERMAPHRODITISM WITH HYPOGONADISM, HYPOSPADIAS, AND GYNECOMASTIA: REIFENSTEIN'S SYNDROME.Annals of internal medicine, 62
Canlorbe P Job JC (1966)
Mosa�ques cellulaires XO/XYArch Franc Pediat, 23
R. Neu, G. Bargman, L. Gardner (1969)
Disappearance of a 47,XX,C+ leucocyte cell line in an infant who had previously exhibited 46,XX-47,XX,C+ mosaicism.Pediatrics, 43 4
Barclay DL Sternberg WH (1968)
Familial XY gonadal dysgenesisNew Eng J Med, 278
V. Vickers, H. Stuart (1943)
Anthropometry in the pediatrician's officeThe Journal of Pediatrics, 22
J. Chemke, Robeet Caemichael, J. Stewart, Richard Geer, A. Robinson (1970)
Familial XY gonadal dysgenesis.Journal of Medical Genetics, 7
P. Zourlas, H. Jones (1965)
Clinical, Histologic, and Cytogenetic Findings in Male Hermaphroditism: III. Male Hermaphrodites with Asymmetrical Gonadal Differentiation (Mixed Gonadal Dysgenesis)Obstetrics & Gynecology, 26
M. Linquette, P. Fossati, J. Lefebvre, M. Decoulx, J. Dupont-Lecomte (1967)
Gynécomastie familiale avec hypospadias: syndrome de Reifenstein.Annales D Endocrinologie, 28
F. French, J. Wyk, B. Baggett, W. Easterling, L. Talbert, F. Johnston, E. Forchielli, A. Dey (1966)
Further evidence of a target organ defect in the syndrome of testicular feminization.The Journal of clinical endocrinology and metabolism, 26 5
Angela Taylor (1968)
Cell Selection in vivo in Normal/G Trisomic MosaicsNature, 219
van Brink JM Willemse CH (1962)
XY/XO mosaicismLancet, 1
J. Morris, R. Scully (1959)
ENDOCRINE PATHOLOGY OF THE OVARYObstetrical & Gynecological Survey, 14
D. Harnden, Sheila Brunton (1965)
The Skin Culture Technique
Teter J Boczkowski K (1967)
Gonadoblastoma (gonocytoma III) in a boy with XO/XY mosaicismActa Path Microbiol Scand, 71
E. Philipp, H. Staemmler (1959)
Geschwister und Zwillinge Als Männliche Scheinzwitter Mit Intersexuellem Äusseren Genitale 1, 2Acta Obstetricia et Gynecologica Scandinavica, 38
Zourlas PA Jones HH (1965)
Clinical, histologic, and cytogenetic findings in male hermaphroditismObstet Gynec, 25
Frézal J Josso N (1966)
Aspects g�n�tiques du pseudohermaphrodisme masculinAnn Genet, 9
H. Turner, R. Greenblatt, H. Dominguez (1963)
Syndrome of gonadal dysgenesis and abdominal testis with an XO/XY chromosome mosaicism.The Journal of clinical endocrinology and metabolism, 23
J. Reitalu (2009)
The occurrence of 48-chromosome cells in a patient with Klinefelter's syndrome over a six-years period. Identification by autoradiography of the 48th chromsome.Hereditas, 58 1
J. Philip, D. Trolle (1965)
Familial male hermaphroditism with delayed and partial masculinization.American journal of obstetrics and gynecology, 93 8
H. Jones, W. Scott (1959)
Hermaphroditism, Genital Anomalies and Related Endocrine DisordersArchives of Disease in Childhood, 47
R. Karsznia, R. Wyss, L. Heinrichs, W. Herrmann (1969)
Testicular Feminization: An Apparent Enzyme DefectGynecologic and Obstetric Investigation, 167
Boeoek Ja, L. Atkins, B. Santesson (1963)
SOME NEW DATA ON AUTOSOMAL ABERRATIONS IN MAN.Pathologie et biologie, 11
Wyss RH Karsznia R (1969)
Testicular feminization: An apparent enzyme defectGynaecologia, 167
N. Josso, J. Grouchy, C. Nezelof, J. Frézal, M. Jammet, M. Lamy (1966)
Mixed gonadal dysgenesis. Two additional pediatric cases.American journal of diseases of children, 112 6
Brunton S Harnden DG (1965)
Human Chromosome Methodology
Lee CSN Bowen P (1965)
Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastiaAnn Intern Med, 62
Ferrier SA Ferrier PE (1967)
Disturbed gonadal differentiation in a child with XO/XY/XYY mosaicism: Relationship with gonadoblastomaHelv Paediat Acta, 22
P. Moorhead, P. Nowell, W. Mellman, D. Battips, D. Hungerford (1960)
Chromosome preparations of leukocytes cultured from human peripheral blood.Experimental cell research, 20
Gilbertas A Boschetti R (1968)
Pseudohermaphrodisme masculin et mosa�que 45,X/46,XYdic/46, XXqAnn Genet, 11
C. Bardin, J. Allison, A. Stanley, Gumbrecklg (1969)
Secretion of testosterone by the pseudohermaphrodite rat.Endocrinology, 84 2
Jost A (1953)
Problems of fetal endocrinology: the gonadal and hypophyseal hormonesRecent Progr Hormone Res, 8
Siebenmann RE (1961)
Pseudohermaphroditismus masculinus mit Gonadoblastomeine besondere IntersexformPath Microbiol, 24
D. Federman (1967)
Abnormal sexual development : a genetic and endocrine approach to differential diagnosis
M. Barr, D. Carr, E. Plunkett, H. Soltan, R. Wiens (1967)
Male pseudohermaphroditism and pure gonadal dysgenesis in sisters.American journal of obstetrics and gynecology, 99 8
Wilkins L (1965)
The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence
de Grouchy J Bitan A (1968)
Dysg�n�sie gonadique mixte (ou differenciation gonadique asym�trique)Ann Pediat, 44
P. Ferrier, S. Gartler, S. Waxman, T. Shepard (1962)
Abnormal sexual development associated with sex chromosome mosaicism. Report of three cases.Pediatrics, 29
Grumbach MM Morishima A (1968)
The interrelationship of sex chromosome constitution and phenotype in the syndrome of gonad dysgenesis and its variantsAnn NY Acad Sci, 155
De Vaal OM (1955)
Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generationsActa Paediat Scand, 44
R. Siebenmann (1961)
Pseudohermaphroditismus masculinus mit Gonadoblastom – eine besondere IntersexformPathobiology, 24
Pierre FERRIERt, V. Kelley (1967)
Influence of the Y chromosome on gonadal differentiation: asymmetrical gonads in an XO-XY mosaic.Journal of Medical Genetics, 4
LaMarche Ph, Heisler Ab, Kronemer Ns (1967)
Disappearing mosaicism. Suggested mechanism is growth advantage of normal over abnormal cell population.Rhode Island medical journal, 50
Hoffman M Jackson WPU (1966)
The 45,XO/46,XY mosaic intersex syndromeJ Med Genet, 3
A. Sohval (1963)
"Mixed" gonadal dysgenesis: a variety of hermaphroditism.American journal of human genetics, 15
Ferrier Pe (1966)
Stability of sex chromosome mosaicism in man.American Journal of Human Genetics, 18
Reitalu J (1967)
The occurrence of 48 chromosome cells in a patient with Klinefleter's syndrome over a six-years periodHereditas, 58
K. Boczkowski, J. Teter (1965)
FAMILIAL MALE PSEUDOHERMAPHRODITISM.Acta endocrinologica, 49
Ferrier SA Ferrier PE (1968)
A male pseudohermaphrodite with a dicentric Y chromosome: Autoradiography studyHumangenetik, 6
O. Vaal (1955)
Genital Intersexuality in Three Brothers, Connected with Consanguineous Marriages in the Three Previous GenerationsActa Pædiatrica, 44
O. Green, R. Miller, O. Garcia, G. Hamwi (1969)
Virilizing male pseudohermaphroditism. Association with abnormal testicular function.The Journal of clinical endocrinology and metabolism, 29 5
W. Mellman, H. Klevit, W. Yakovac, P. Moorhead, E. Saksela (1963)
XO-XY CHROMOSOME MOSAICISM.The Journal of clinical endocrinology and metabolism, 23
Pyle SI Greulich WW (1959)
Radiographic Atlas of Skeletal Development of the Hand and the Wrist
Abstract Cytogenetic studies in eight patients with male pseudohermaphrodism, not of the testicular feminization type, are reported. Sex-Chromosome mosaicism was observed in six of the eight patients. XO/XY mosaicism was found to persist in one of the patients over an observation period of eight years. In general, the presence of XO cells affected the physical characteristics of the patients, particularly longitudinal growth. Three of the patients attained pubertal age and virilized; however, all had evidence of partial testicular failure. The brother of one of the two patients without mosaicism (XY) had a severe degree of hypospadias, suggesting a familial tendency toward abnormal sexual differentiation in the males. References 1. Jost A: Problems of fetal endocrinology: the gonadal and hypophyseal hormones . Recent Progr Hormone Res 8:379-418,1953. 2. Ferrier PE, Kelley VC: Influence of the Y chromosome on gonadal differentiation: Asymmetrical gonads in an XO/XY mosaic . J Med Genet 4:288-294, 1967.Crossref 3. Ferrier P, Gartler SM, Waxman SH, et al: Abnormal sexual development associated with sex chromosome mosaicism: Report of three cases . Pediatrics 29:703-713, 1962. 4. Ferrier PE, Ferrier SA, Schärer KO, et al: Disturbed gonadal differentiation in a child with XO/XY/XYY mosaicism: Relationship with gonadoblastoma . Helv Paediat Acta 22:479-490, 1967. 5. Ferrier PE, Ferrier SA, Bill AH: A male pseudohermaphrodite with a dicentric Y chromosome: Autoradiography study . Humangenetik 6:131-141, 1968. 6. Vickers VS, Stuart HC: Anthropometry in the pediatrician's office: Norms for selected body measurements on studies of children of North European stock . J Pediat 22:155, 1943.Crossref 7. Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and the Wrist , ed 2. Stanford Calif, Stanford University Press, 1959. 8. Wilkins L: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3. Springfield Ill, Charles C Thomas Publisher, 1965. 9. Moorhead PS, Nowell PC, Mellman WJ, et al: Chromosome preparations of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616,1960.Crossref 10. Harnden DG, Brunton S: The skin culture technique , in Yunis JJ (ed): Human Chromosome Methodology . New York, Academic Press Inc, 1965, p 57. 11. Ferrier PE: Stability of the sex chromosome mosaicism in man . Amer J Hum Genet 18:614-615, 1966. 12. Ferrier PE, Ferrier SA, Schärer KO, et al: Multiple chromosome aberrations: XO/XY/XYY mosaicism and a translocation in the same family . Helv Paediat Acta 22:516-528, 1967. 13. Federman DD: Abnormal Sexual Development: A Genetic and Endocrine Approach to Differential Diagnosis . Philadelphia, WB Saunders Co, 1967. 14. Jones HW, Scott WW: Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958. 15. Bardin CW, Allison JE, Stanley AJ, et al: Secretion of testosterone by the pseudohermaphrodite rat . Endocrinology 84:435-436, 1969.Crossref 16. Morris JM, Scully RE: Endocrine Pathology of the Ovary . St. Louis, CV Mosby Co, 1958. 17. Siebenmann RE: Pseudohermaphroditismus masculinus mit Gonadoblastomeine besondere Intersexform . Path Microbiol 24:233-238, 1961. 18. Sohval AR: "Mixed" gonadal dysgenesis: A variety of hermaphroditism . Amer J Hum Genet 15:155-158, 1963. 19. Jost A: Embryonic sexual differentiation (morphology, physiology, abnormalities) , in Jones HW, Scott WW(eds): Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958. 20. Alexander DS, Ferguson-Smith MA: Chromosomal studies in some variants of male pseudohermaphroditism . Pediatrics 28:758-763,1961. 21. Jones HH, Zourlas PA: Clinical, histologic, and cytogenetic findings in male hermaphroditism . Obstet Gynec 25:597-606, 1965. 22. Morishima A, Grumbach MM: The interrelationship of sex chromosome constitution and phenotype in the syndrome of gonad dysgenesis and its variants . Ann NY Acad Sci 155:695-715, 1968.Crossref 23. Zourlas PA, Jones HW: Clinical, histologic, and cytogenetic findings in male hermaphroditism: III. Male hermaphrodites with asymmetrical gonadal differentiation (mixed gonadal dysgenesis) . Obstet Gynec 26:48-58,1965. 24. Josso N, de Grouchy J, Nezelof C, et al: Mixed gonadal dysgenesis: Two additional pediatric cases . Amer J Dis Child 112:531-535, 1966.Crossref 25. Bitan A, de Grouchy J, Jolly G, et al: Dysgénésie gonadique mixte (ou differenciation gonadique asymétrique) . Ann Pediat 44:88-97, 1968. 26. Böök JA, Atkins L, Santesson B: Some new data on autosomal aberrations in man . Path Biol 11:1159-1162, 1963. 27. La Marche PH, Heisler AB, Kronemer NS: Disappearing mosaicism: Suggested mechanism is growth advantage of normal over abnormal cell population . Rhode Island Med J 50:184-189,1967. 28. Taylor AI: Cell selection in vivo in normal/G trisomic mosaics . Nature 219:1028-1030,1968.Crossref 29. Neu RL, Bargman GJ, Gardner LI: Disappearance of a 47, XXC + leukocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C + mosaicism . Pediatrics 43:624-626,1969. 30. Reitalu J: The occurrence of 48 chromosome cells in a patient with Klinefleter's syndrome over a six-years period . Hereditas 58:63-72, 1967.Crossref 31. Jackson WPU, Hoffman M, Makda H: The 45,XO/46,XY mosaic intersex syndrome . J Med Genet 3:23-32,1966.Crossref 32. Job JC, Canlorbe P, de Grouchy J, et al: Mosaïques cellulaires XO/XY . Arch Franc Pediat 23:297-312,1966. 33. Willemse CH, van Brink JM, Los PL: XY/XO mosaicism . Lancet 1:488-489, 1962.Crossref 34. Mellman WJ, Klevit HD, Yakovac WC, et al: XO/XY chromosome mosaicism . J Clin Endocr 23:1090-1095, 1963.Crossref 35. Turner HH, Greenblatt RB, Dominguez H: Syndrome of gonadal dysgenesis and abdominal testis with an XO/XY chromosome mosaicism . J Clin Endocr 23:709-716, 1963.Crossref 36. Boczkowski K, Teter J, Tomaszewska H, et al: Gonadoblastoma (gonocytoma III) in a boy with XO/XY mosaicism . Acta Path Microbiol Scand 71:46-58, 1967.Crossref 37. Boschetti R, Gilbertas A, Noel B, et al: Pseudohermaphrodisme masculin et mosaïque 45,X/46,XYdic/46, XXq . Ann Genet 11:62-65,1968. 38. French FS, Van Wyk JJ, Baggett B, et al: Further evidence of a target organ defect in the syndrome of testicular feminization . J Clin Endocr 26:493-503, 1966.Crossref 39. Karsznia R, Wyss RH, Heinrichs WL, et al: Testicular feminization: An apparent enzyme defect . Gynaecologia 167:197, 1969. 40. Bowen P, Lee CSN, Migeon CJ, et al: Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastia . Ann Intern Med 62:252-270, 1965.Crossref 41. Linquette M, Fossati P, Lefebvre J, et al: Gynécomastie familiale avec hypospadias: Syndrome de Reifenstein . Ann Endocr 28:381-390,1967. 42. Philipp E, Staemmler HJ: Geschwister und Zwillinge als Männliche Scheinzwitter mit intersexuellem äusseren Genitale . Acta Obstet Gynec Scand 38:645-662,1959.Crossref 43. Bergman S, Reitalu J, Sundén B: Male pseudohermaphroditism in two sisters . Acta Obstet Gynec Scand 42:138-150, 1963.Crossref 44. Boczkowski K, Teter J: Familial male pseudohermaphroditism . Acta Endocr 49:497-509, 1965. 45. Josso N, Frézal J, Lamy M: Aspects génétiques du pseudohermaphrodisme masculin . Ann Genet 9:175-181,1966. 46. Sternberg WH, Barclay DL: Women with male sex chromosomes: The syndromes of testicular feminization and XY gonadal dysgenesis . J Amer Med Wom Assoc 22:885-893, 1967. 47. Green OC, Miller RR, Garcia O, et al: Virilizing male pseudohermaphroditism: Association with abnormal testicular function . J Clin Endocr 29:728-737, 1969.Crossref 48. De Vaal OM: Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generations . Acta Paediat Scand 44:35-39, 1955.Crossref 49. Philip J, Trolle D: Familial male hermaphroditism with delayed and partial masculinization . Amer J Obstet Gynec 93:1076-1083, 1965. 50. Barr ML, Carr DH, Plunkett ER, et al: Male pseudohermaphroditism and pure gonadal dysgenesis in sisters . Amer J Obstet Gynec 99:1047-1055, 1967. 51. Sternberg WH, Barclay DL, Kloepfer HW: Familial XY gonadal dysgenesis . New Eng J Med 278:695-700,1968.Crossref
American Journal of Diseases of Children – American Medical Association
Published: Dec 1, 1970
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