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Y-Autosome Translocation, Gonadal Dysgenesis, and Gonadoblastoma

Y-Autosome Translocation, Gonadal Dysgenesis, and Gonadoblastoma Abstract • A 5-year-old girl was discovered to have an abnormal karyotype with a translocation involving the Y chromosome. The primary complaint was slight physical growth retardation. Cytogenetic and endocrinologic evaluations were performed. The chromosomal complement exhibited a mosaicism: 45,X,t(Y;18)(q11;p11)/45,X0. The gonads of this patient were typical streaks containing no ova or follicles. A gonadoblastoma was present bilaterally. (Am J Dis Child 133:277-282, 1979) References 1. Simpson JL: Disorders of Sexual Differentiation . New York, Academic Press Inc, 1977. 2. Van der Berghe J, Steeno P, Verresen H, et al: Hypogonadism associated with chromosomal break in autosome No. 2 and translocation presumably on the Y chromosome . J Clin Endocrinol Metab 25:1246-1250, 1965.Crossref 3. Bühler EM, Müller H, Stalder GR: A strongly fluorescing abnormal chromosome in a malformed child . Humangenetik 12:64-66, 1971.Crossref 4. Noël B, Emerit I, Luciani JM, et al: A familial Y/autosome translocation in man . Clin Genet 2:1-6, 1971.Crossref 5. Friedriech U, Nielsen J: Presumptive Y-15 and Y-22 translocation in two families . Hereditas 71:339-342, 1972.Crossref 6. Krmpotic E, Szego K, Modestas R, et al: Localization of male determining factor on short arm of Y chromosome . Clin Genet 3:381-387, 1972.Crossref 7. Frund S, Koske-Westphall F, Fuchs-Meeke S, et al: Quinacrine mustard fluorescence of a second Y chromosome in a Y autosomal translocation . Humangenetik 14:133-136, 1972.Crossref 8. Lucas M, Dewhurst CJ: Y chromosome fluorescence in phenotypic females . J Obstet Gynaecol Br Commonw 79:498-503, 1972.Crossref 9. Pfeiffer BA, Bier L, Majewski F, et al: De novo translocation (t(Yq−;15p + ) in a malformed boy . Humangenetik 19:349-352, 1973.Crossref 10. Gilgenkrantz S, Pierson M, Mauuary G: Chromosome 13q + par translocation probable d'un Y surnuméraire . Ann Genet 16:167-172, 1973. 11. Lindsten C, Philip J: Y/22 translocation in a YY male . Cytogenet Cell Genet 12:53-59, 1973.Crossref 12. Develing AJ, Conte FA, Epstein CJ: A Y-autosome translocation 46,X,t(Yq−;7q + ) associated with multiple congenital anomalies . J Pediatr 82:495-498, 1973.Crossref 13. Park JI, Heller RH, Jones HW, et al: Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome/Y chromosome translocation . Am J Obstet Gynecol 119:661-668, 1974. 14. Dutrillaux B, Gueguen J: Etude meiotique et mitotique dans un cas de translocation t(5;Y) . Humangenetik 27:241-245, 1975.Crossref 15. Turleau C, Plachot M, Chavin-Colin F, et al: Distribution des points de cassure chromosomique dans les remaniements constitutionnels . Lyon Med 233:329-335, 1975. 16. Hahnemann N, Miller RC, Greene AE, et al: A(Y:15) translocation, 46 chromosomes . Cytogenet Cell Genet 15:408-409, 1975.Crossref 17. Chandley AC, Edmond P, Christi S, et al: Cytogenetics and infertility in man . Ann Hum Genet 39:231-252, 1975.Crossref 18. Laurent C, Dutrillaux B: Translation t(Y;14) chez un homme azoospermique . Ann Genet 19:207-209, 1976. 19. Turleau C, Croquette MF, Fourlinnie JC, et al: Translocation 46,X, t(Y;7) (q122;q111) dans un cas de sterilite masculine . Ann Genet 19:210-212, 1976. 20. Vignetti P, Chessa L, Bruni L, et al: Translocation Y/5 resulting in cri du chat syndrome . Clin Genet 12:319-322, 1977.Crossref 21. Wisniewski L, Higgins JV: Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities . J Med Genet 14:378-381, 1977.Crossref 22. Simpson JL: Structural Abnormalities of the Y Chromosome and 45,X/46,XY Mosaicism . Atlanta, Society for Gynecologic Investigation, 1978. 23. Benirschke K, Naftolin F, Gittes R, et al: True hermaphroditism and chimerism . Am J Obstet Gynecol 113:449-458, 1972. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Y-Autosome Translocation, Gonadal Dysgenesis, and Gonadoblastoma

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Publisher
American Medical Association
Copyright
Copyright © 1979 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1979.02130030053009
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 5-year-old girl was discovered to have an abnormal karyotype with a translocation involving the Y chromosome. The primary complaint was slight physical growth retardation. Cytogenetic and endocrinologic evaluations were performed. The chromosomal complement exhibited a mosaicism: 45,X,t(Y;18)(q11;p11)/45,X0. The gonads of this patient were typical streaks containing no ova or follicles. A gonadoblastoma was present bilaterally. (Am J Dis Child 133:277-282, 1979) References 1. Simpson JL: Disorders of Sexual Differentiation . New York, Academic Press Inc, 1977. 2. Van der Berghe J, Steeno P, Verresen H, et al: Hypogonadism associated with chromosomal break in autosome No. 2 and translocation presumably on the Y chromosome . J Clin Endocrinol Metab 25:1246-1250, 1965.Crossref 3. Bühler EM, Müller H, Stalder GR: A strongly fluorescing abnormal chromosome in a malformed child . Humangenetik 12:64-66, 1971.Crossref 4. Noël B, Emerit I, Luciani JM, et al: A familial Y/autosome translocation in man . Clin Genet 2:1-6, 1971.Crossref 5. Friedriech U, Nielsen J: Presumptive Y-15 and Y-22 translocation in two families . Hereditas 71:339-342, 1972.Crossref 6. Krmpotic E, Szego K, Modestas R, et al: Localization of male determining factor on short arm of Y chromosome . Clin Genet 3:381-387, 1972.Crossref 7. Frund S, Koske-Westphall F, Fuchs-Meeke S, et al: Quinacrine mustard fluorescence of a second Y chromosome in a Y autosomal translocation . Humangenetik 14:133-136, 1972.Crossref 8. Lucas M, Dewhurst CJ: Y chromosome fluorescence in phenotypic females . J Obstet Gynaecol Br Commonw 79:498-503, 1972.Crossref 9. Pfeiffer BA, Bier L, Majewski F, et al: De novo translocation (t(Yq−;15p + ) in a malformed boy . Humangenetik 19:349-352, 1973.Crossref 10. Gilgenkrantz S, Pierson M, Mauuary G: Chromosome 13q + par translocation probable d'un Y surnuméraire . Ann Genet 16:167-172, 1973. 11. Lindsten C, Philip J: Y/22 translocation in a YY male . Cytogenet Cell Genet 12:53-59, 1973.Crossref 12. Develing AJ, Conte FA, Epstein CJ: A Y-autosome translocation 46,X,t(Yq−;7q + ) associated with multiple congenital anomalies . J Pediatr 82:495-498, 1973.Crossref 13. Park JI, Heller RH, Jones HW, et al: Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome/Y chromosome translocation . Am J Obstet Gynecol 119:661-668, 1974. 14. Dutrillaux B, Gueguen J: Etude meiotique et mitotique dans un cas de translocation t(5;Y) . Humangenetik 27:241-245, 1975.Crossref 15. Turleau C, Plachot M, Chavin-Colin F, et al: Distribution des points de cassure chromosomique dans les remaniements constitutionnels . Lyon Med 233:329-335, 1975. 16. Hahnemann N, Miller RC, Greene AE, et al: A(Y:15) translocation, 46 chromosomes . Cytogenet Cell Genet 15:408-409, 1975.Crossref 17. Chandley AC, Edmond P, Christi S, et al: Cytogenetics and infertility in man . Ann Hum Genet 39:231-252, 1975.Crossref 18. Laurent C, Dutrillaux B: Translation t(Y;14) chez un homme azoospermique . Ann Genet 19:207-209, 1976. 19. Turleau C, Croquette MF, Fourlinnie JC, et al: Translocation 46,X, t(Y;7) (q122;q111) dans un cas de sterilite masculine . Ann Genet 19:210-212, 1976. 20. Vignetti P, Chessa L, Bruni L, et al: Translocation Y/5 resulting in cri du chat syndrome . Clin Genet 12:319-322, 1977.Crossref 21. Wisniewski L, Higgins JV: Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities . J Med Genet 14:378-381, 1977.Crossref 22. Simpson JL: Structural Abnormalities of the Y Chromosome and 45,X/46,XY Mosaicism . Atlanta, Society for Gynecologic Investigation, 1978. 23. Benirschke K, Naftolin F, Gittes R, et al: True hermaphroditism and chimerism . Am J Obstet Gynecol 113:449-458, 1972.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Mar 1, 1979

References