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Isochromosome X: Clinical and Psychological Findings

Isochromosome X: Clinical and Psychological Findings Abstract We describe six girls with 46, XX qi karyo-type. The clinical and psychological characteristics are similar to those of girls and women with XO or XX/XO karyotype. Features that are commonly present include short stature, overweight, scant secondary sexual characteristics, sterility, strabismus, nevi, cubitus valgus, minor urinary tract anomalies, normal intelligence, space-form difficulties, deficit in visual-motor coordination, and exclusively feminine behavior. These patients can have coarctation of the aorta, and they may not be as well-adjusted as girls and women with XO or XX/XO karyotype. References 1. Carr DH: Chromosomal abnormalities in clinical medicine . Prog Med Genet 6:1-61, 1969.Crossref 2. Ford CE, et al: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome) . Lancet 1:711-713, 1959.Crossref 3. Ferguson-Smith MA, et al: Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner's syndrome . Cytogenetics 3:355-383, 1964.Crossref 4. Jacobs PA, et al: Cytogenetic studies in primary amenorrhoea . Lancet 1:1183-1189, 1961.Crossref 5. Ferguson-Smith MA: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations . J Med Genet 2:142-155, 1965.Crossref 6. Engel E, Forbes AP: Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries . Medicine (Baltimore) 44:135-164, 1965.Crossref 7. Goldberg MB, et al: Gonadal dysgenesis in phenotypic female subjects: A review of 87 cases, with cytogenetic studies in 53 . Am J Med 45:529-543, 1968.Crossref 8. Fraccaro M, et al: A new type of chromosomal abnormality in gonadal dysgenesis . Lancet 2:1144, 1960.Crossref 9. Engel E, Forbes AP: An abnormal medium-sized metacentric chromosome in a woman with primary gonadal failure . Lancet 2:1004-1005, 1961.Crossref 10. Hamerton JL, Jagiello GM, Kirman BH: Sex-chromosome abnormalities in a population of mentally defective children . Br Med J 1:220-223, 1962.Crossref 11. Maclean N: The drumsticks of polymorphonu-clear leucocytes in sex-chromosome abnormalities . Lancet 1:1154-1158, 1962.Crossref 12. Forbes AP, Engel E: The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives . Metabolism 12:428-439, 1963. 13. Grumbach MM, Morishima A, Taylor JH: Human sex chromosome abnormalities in relation to DNA replication and heterochromatinization . Proc Natl Acad Sci USA 49:581-589, 1963.Crossref 14. Lindsten J, et al: Presumptive iso-chromosomes for the long arm of X in man: Analysis of five families . Ann Hum Genet 26:383-405, 1963.Crossref 15. Muldal S, et al: Tritiated thymidine incorporation in an isochromosome for the long arm of the X chromosome in man . Lancet 1:861-863, 1963.Crossref 16. Sparkes RS, Motulsky AG: Hashimoto's disease in Turner's syndrome with isochromosome X . Lancet 1:947, 1963.Crossref 17. Taft PD, Brooks SEH: Late labelling of iso-X chromosome . Lancet 2:1069, 1963.Crossref 18. Grumbach MM, Morishima A: X-chromosome abnormalities in gonadal dysgenesis; DNA replication of structurally abnormal X-chromosomes; relation to thyroid disease . J Pediatr 65:1087-1088, 1964.Crossref 19. Williams ED, Engel E, Forbes AP: Thyroiditis and gonadal dysgenesis . N Engl J Med 270:805-810, 1964.Crossref 20. Ree MJ: Ovarian dysgenesis and presumed iso-chromosome of the long arm of X . J Med Genet 2:205-211, 1965.Crossref 21. Preger L, et al: Roentgenographic abnormalities in phenotypic females with gonadal dysgenesis: A comparison of chromatin positive patients and chromatin negative patients . Am J Roentgenol Radium Ther Nucl Med 104:899-910, 1968.Crossref 22. Scott WA: Isochromosome X . Ala J Med Sci 7:313-317, 1970. 23. Carr DH, Barr ML, Rathbun JC: A probable isochromosome in a child with multiple congenital anomalies . J Pediatr 62:696-701, 1963.Crossref 24. Summitt RL, Dobbins WT: Turner syndrome due to presumptive X-isochromosome: Report of a case . J Pediatr 67:76-83, 1965.Crossref 25. Moorhead PS, et al: Chromosome preparations of leucocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960.Crossref 26. Kikuchi Y, Sandberg AA: Chronology and pattern of human chromosome replication: II. Autoradiographic behavior of various Y and X chromosomes . J Natl Cancer Inst 34:795-813, 1965. 27. Schmid W: DNA replication patterns of human chromosomes . Cytogenetics 2:175-193, 1963.Crossref 28. Benton AL: The Revised Visual Retention Test: Clinical and Experimental Application . New York, Psychological Corporation, 1955. 29. Harris DB: Children's Drawings as Measures of Intellectual Maturity: A Revision and Extension of the Goodenough Draw-A-Man Test . New York, Harcourt, Brace and World Inc, 1963. 30. Money J, Granoff D: IQ and the somatic stigmata of Turner's syndrome . Am J Ment Defic 70:69-77, 1965. 31. Money J: Cytogenetic and psychosexual incongruities with a note on space-form blindness . Am J Psychiatry 119:820-827, 1963. 32. Shaffer JW: A specific cognitive deficit observed in gonadal aplasia (Turner's syndrome) . J Clin Psychol 18:403-406, 1962.Crossref 33. Ehrhardt AA, Greenberg N, Money J: Female gender identity and absence of fetal gonadal hormones: Turner's syndrome . Johns Hopkins Med J 126:237-248, 1970. 34. Money J, Mittenthal S: Lack of personality pathology in Turner's syndrome: Relation to cytogenetics, hormones and physique . Behav Genet 1:43-56, 1970.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Isochromosome X: Clinical and Psychological Findings

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References (37)

Publisher
American Medical Association
Copyright
Copyright © 1973 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1973.02110190274005
Publisher site
See Article on Publisher Site

Abstract

Abstract We describe six girls with 46, XX qi karyo-type. The clinical and psychological characteristics are similar to those of girls and women with XO or XX/XO karyotype. Features that are commonly present include short stature, overweight, scant secondary sexual characteristics, sterility, strabismus, nevi, cubitus valgus, minor urinary tract anomalies, normal intelligence, space-form difficulties, deficit in visual-motor coordination, and exclusively feminine behavior. These patients can have coarctation of the aorta, and they may not be as well-adjusted as girls and women with XO or XX/XO karyotype. References 1. Carr DH: Chromosomal abnormalities in clinical medicine . Prog Med Genet 6:1-61, 1969.Crossref 2. Ford CE, et al: A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome) . Lancet 1:711-713, 1959.Crossref 3. Ferguson-Smith MA, et al: Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner's syndrome . Cytogenetics 3:355-383, 1964.Crossref 4. Jacobs PA, et al: Cytogenetic studies in primary amenorrhoea . Lancet 1:1183-1189, 1961.Crossref 5. Ferguson-Smith MA: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations . J Med Genet 2:142-155, 1965.Crossref 6. Engel E, Forbes AP: Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries . Medicine (Baltimore) 44:135-164, 1965.Crossref 7. Goldberg MB, et al: Gonadal dysgenesis in phenotypic female subjects: A review of 87 cases, with cytogenetic studies in 53 . Am J Med 45:529-543, 1968.Crossref 8. Fraccaro M, et al: A new type of chromosomal abnormality in gonadal dysgenesis . Lancet 2:1144, 1960.Crossref 9. Engel E, Forbes AP: An abnormal medium-sized metacentric chromosome in a woman with primary gonadal failure . Lancet 2:1004-1005, 1961.Crossref 10. Hamerton JL, Jagiello GM, Kirman BH: Sex-chromosome abnormalities in a population of mentally defective children . Br Med J 1:220-223, 1962.Crossref 11. Maclean N: The drumsticks of polymorphonu-clear leucocytes in sex-chromosome abnormalities . Lancet 1:1154-1158, 1962.Crossref 12. Forbes AP, Engel E: The high incidence of diabetes mellitus in 41 patients with gonadal dysgenesis, and their close relatives . Metabolism 12:428-439, 1963. 13. Grumbach MM, Morishima A, Taylor JH: Human sex chromosome abnormalities in relation to DNA replication and heterochromatinization . Proc Natl Acad Sci USA 49:581-589, 1963.Crossref 14. Lindsten J, et al: Presumptive iso-chromosomes for the long arm of X in man: Analysis of five families . Ann Hum Genet 26:383-405, 1963.Crossref 15. Muldal S, et al: Tritiated thymidine incorporation in an isochromosome for the long arm of the X chromosome in man . Lancet 1:861-863, 1963.Crossref 16. Sparkes RS, Motulsky AG: Hashimoto's disease in Turner's syndrome with isochromosome X . Lancet 1:947, 1963.Crossref 17. Taft PD, Brooks SEH: Late labelling of iso-X chromosome . Lancet 2:1069, 1963.Crossref 18. Grumbach MM, Morishima A: X-chromosome abnormalities in gonadal dysgenesis; DNA replication of structurally abnormal X-chromosomes; relation to thyroid disease . J Pediatr 65:1087-1088, 1964.Crossref 19. Williams ED, Engel E, Forbes AP: Thyroiditis and gonadal dysgenesis . N Engl J Med 270:805-810, 1964.Crossref 20. Ree MJ: Ovarian dysgenesis and presumed iso-chromosome of the long arm of X . J Med Genet 2:205-211, 1965.Crossref 21. Preger L, et al: Roentgenographic abnormalities in phenotypic females with gonadal dysgenesis: A comparison of chromatin positive patients and chromatin negative patients . Am J Roentgenol Radium Ther Nucl Med 104:899-910, 1968.Crossref 22. Scott WA: Isochromosome X . Ala J Med Sci 7:313-317, 1970. 23. Carr DH, Barr ML, Rathbun JC: A probable isochromosome in a child with multiple congenital anomalies . J Pediatr 62:696-701, 1963.Crossref 24. Summitt RL, Dobbins WT: Turner syndrome due to presumptive X-isochromosome: Report of a case . J Pediatr 67:76-83, 1965.Crossref 25. Moorhead PS, et al: Chromosome preparations of leucocytes cultured from human peripheral blood . Exp Cell Res 20:613-616, 1960.Crossref 26. Kikuchi Y, Sandberg AA: Chronology and pattern of human chromosome replication: II. Autoradiographic behavior of various Y and X chromosomes . J Natl Cancer Inst 34:795-813, 1965. 27. Schmid W: DNA replication patterns of human chromosomes . Cytogenetics 2:175-193, 1963.Crossref 28. Benton AL: The Revised Visual Retention Test: Clinical and Experimental Application . New York, Psychological Corporation, 1955. 29. Harris DB: Children's Drawings as Measures of Intellectual Maturity: A Revision and Extension of the Goodenough Draw-A-Man Test . New York, Harcourt, Brace and World Inc, 1963. 30. Money J, Granoff D: IQ and the somatic stigmata of Turner's syndrome . Am J Ment Defic 70:69-77, 1965. 31. Money J: Cytogenetic and psychosexual incongruities with a note on space-form blindness . Am J Psychiatry 119:820-827, 1963. 32. Shaffer JW: A specific cognitive deficit observed in gonadal aplasia (Turner's syndrome) . J Clin Psychol 18:403-406, 1962.Crossref 33. Ehrhardt AA, Greenberg N, Money J: Female gender identity and absence of fetal gonadal hormones: Turner's syndrome . Johns Hopkins Med J 126:237-248, 1970. 34. Money J, Mittenthal S: Lack of personality pathology in Turner's syndrome: Relation to cytogenetics, hormones and physique . Behav Genet 1:43-56, 1970.Crossref

Journal

American Journal of Diseases of Children – American Medical Association

Published: Sep 1, 1973

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