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.

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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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