TWO PATIENTS WITH X CHROMOSOME DUPLICATION: dupXp AND dupXq
Ozer O1, Yilmaz Z1, Simsek E2, Derbent M3, Guner S3, Sahin FI1*
*Corresponding Author: Feride I. Sahin, Department of Medical Genetics, Faculty of Medicine, Baskent University, Kubilay sok. No: 36, 06570 Maltepe, Ankara, Turkey; Tel.: +90-312-232-44- 00/302; Fax: +90-312-231-91-34; E-mail: feridesahin@hotmail.com
page: 59

REFERENCES

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8. Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. Molecular cytogenetic analysis of duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 2000; 58(2): 116-122.

9. Tihy F, Lemyre E, Lemieux N, Dallaire L. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. Am J Med Genet 1999; 87(4): 302-305.

10. Tuck-Miller CM, Martinez JE, Batista DAS, Kearns WG, Wertelecki W. Duplication of the short arm of the X chromosome in mother and daughter. Hum Genet 1993; 91(4): 395-400.

11. Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functinal disomy of X material is the cause of abnormal phenotype. Am J Med Genet A 2003; 116(1): 71-76.

12. Van Dyke DL, Miller MJ, Weiss L. The origin of inverted tandem duplications and phenotypic effects of tandem duplication of the X chromosome long arm. Am J Med Genet 1983; 15(3): 441-450.

13. Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel- Boroviczeny O, Stengel-Rutkowski S. Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12→q13.3) inherited from the mother. Clin Genet 1996; 50(2): 63-73.

14. Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet 1998; 80(4): 377-384.

15. Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD. Inherited duplication of Xq27.2→qter: phenocopy of infantile Prader-Willi syndrome. Clin Dysmorphol 2001; 10(2): 141-144.

16. Thode A, Partington MW, Yip MY, Chap man C, Richardson VF, Turner G. A new syndrome with mental retardation, short stature and an Xq duplication. Am J Med Genet 1988; 30(1-2): 239-250.

17. Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M, Namba H, Ninomiya S, Highuchi J, Seino Y. Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3→q21.2). Am J Med Genet 1992; 42(5): 660-664.

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19. Vokac NK, Ciglenecki PS, Erjavec A, Zagradisnik B, Zagorac A. Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late- replicating dupX chromosome. Clin Genet 2002; 61(1): 54-61.

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