Isochromosome Xq in Klinefelter Syndrome: Report of 7 New Cases

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 64, Issue 4, 1996, Pages 580-582

  Arps, S ^a,g   Koske Westphal, T ^a   Meinecke, P ^b   Meschede, D ^c   Nieschlag, E ^c   Harprecht, W ^d   Steuber, E ^d   Back, E ^e   Wolff, G ^e   Kerber, S ^f   Held, K R ^f  

^a Abt fur Pranatale Diagn Therapie   (Germany)

^b Altonaer Kinderkrankenhaus   (Germany)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d PHILIPPS UNIVERSITY MARBURG   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY OF HAMBURG   (Germany)

^g Labor Dres Fenner and Partner   (Germany)

Author keywords

Isochromosome Xq; Klinefelter syndrome; Short stature

Indexed keywords

ADULT; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME XQ; CLINICAL ARTICLE; FEMALE; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; ISOCHROMOSOME X; KARYOTYPE; KLINEFELTER SYNDROME; MENTAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; SHORT STATURE;

ADULT; FEMALE; HUMANS; ISOCHROMOSOMES; KLINEFELTER SYNDROME; MALE; X CHROMOSOME;

EID: 0029816921     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960906)64:4<580::aid-ajmg10>3.0.co;2-d     Document Type: Article

References (26)

1. Alliet J, Leporrier N, Lebries C, Gourdier D (1989): Prenatal diagnosis of a mosaic 46,XY/47,X,i(Xq)Y. Prenat Diagn 9:61-65.
2. Chandra HS, Reddy GN, Peter J, Venkattachalaiah G (1971): A 47,XXq-Y Klinefelter male. J Med Genet 8:530-532.
3. Chapdelaine A, Richer CL, Cadotte R, Murer-Orlando M, Roberts KD, Bleau G (1979): Isochromosome Xq in a patient with Klinefelter's syndrome and normal masculinization. Fertil Steril 32:249.
4. De Grouchy J, Turleau C (1982): "Atlas des Maladies Chromosomiques," 2nd ed. Paris: Expansion Scientifique Française, pp 394-397.
5. Donlan MA, Dolan CR, Metcalf MJ, Bradley CM, Salk D (1987): Trisomy Xq in a male: The isochromosome X Klinefelter syndrome. Am J Med Genet 27:189-194.
6. Fryns JP (1982): Klinefelter syndrome and the Xq11-22 region. Clin Genet 20:237.
7. Fryns JP, Kleczkowska A, Steeno O (1990): Isochromosome Xq in Klinefelter syndrome. Am J Med Genet 36:365.
8. Gardiner A, Brown MM, Gray JE (1978): Unusual chromosome variant in Klinefelter's syndrome. Br Med J [Clin Res] 2:1123.
9. Geneix A, Janny L, Perissel B, Hermabasseri J, Lourbier R, Malet P (1983): 47,X,iso(Xq),Y karyotype. A new case. Pathologica 75: 425-428.
10. Grabski J, Pusch H, Schirren C, Passarge E, Held K, Bartsch W, Wernicke I (1979): Klinische, hormonale, histologische und chromosomale Untersuchungen beim Klinefelter-Syndrom. Andrologia 11:182-196.
11. Kalousek D, Cushman-Biddle CJ, Rudner M, Arronet GH, Fraser FC (1978): 47,Xi(Xq),Y karyotype in Klinefelter's syndrome. Hum Genet 43:107-110.
12. Kleczkowska A, Fryns JP, Van den Berghe H (1988): X-chromosome polysomy in the male. Hum Genet 80:16-22.
13. Lorda-Sanchez I, Binker TF, Maechler M, Schinzel A (1991): A molecular study of X isochromosomes: Parental origin, centromeric structure, and mechanisms of formation. Am J Hum Genet 49: 1034-1040.
14. McDermott A (1978): Personal communication, Cited in: Donlan MA, Dolan CR, Metcalf MJ, Bradley CM, Salk D (1987): Trisomy Xq in a male: The isochromosome X Klinefelter syndrome. Am J Med Genet 27:189-194.
15. McDermott A (1978): Personal communication, Cited in: Donlan MA, Dolan CR, Metcalf MJ, Bradley CM, Salk D (1987): Trisomy Xq in a male: The isochromosome X Klinefelter syndrome. Am J Med Genet 27:189-194.
16. Nielsen J, Rasmussen K, Sillesen I (1976): A boy with 47,X,del (X)(p11-q13:q21-q24),del(Y)q11). Hum Genet 31:227-230.
17. Ogata T, Matsuo N (1993): Sex chromosome aberrations and stature: Deduction of the principal factors involved in the determination of adult height. Hum Genet 91:551-562.
18. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P (1992): Localisation of a pseudoautosomal growth gene(s). J Med Genet 29:624-628.
19. Patil SR, Bartley JA, Hanson JW (1981): Association of the X chromosomal region q11-22 and Klinefelter syndrome. Clin Genet 19: 343-346.
20. Ponzio G, DeMarchi M, Gallone G, Fonzo D, Carbonara AO (1980): A case of Klinefelter's syndrome with 47,Xi(Xq)Y karyotype. J Med Genet 17:152-155.
21. Richer CL, Bleau G, Chapdelaine A, Murer-Orlando M, Lemieux N, Cadotte M (1989): A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization. Am J Med Genet 32:42-44.
22. Schmid W, Naef E, Mürset G, Prader A (1974): Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotype. Human-genetik 24:93-104.
23. Trunca C, Roginsky YM, Uginsky C, Milson J (1979): 47,X,i(Xq),Y: An unusual chromosome complement associated with the Klinefelter syndrome. Am J Hum Genet 31:113.
24. Varrela J (1984): Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males. Am J Phys Anthropol 64:233-242.
25. Zang KD, Singer H, Loeffler L, Souvatzoglou, Halbfass J, Mehnert H (1969): Klinefelter-Syndrom mit dem Chromosomensatz 47,XXqiY. Klin Wochenschr 47:237-244.
26. Zelante L, Calvano S, Dallapiccola B (1991): Isodicentric Xq in Kline-felter syndrome. Am J Med Genet 41:267-268.