FLOURESCENT IN SITU HYBRIDIZATION AND MOLECULAR ANALYSIS OF A SHORT GIRL WITH A 45,X/46,X, idic(X)(qter->p12.3::p12.3->qter) KARYOTYPE
Kitsiou S1,*, Mavrou A1, Kolialexi A1, Sofocleous C1, Bakoula C2, Kanavakis E1, Dakou-Voutetakis C3
*Corresponding Author: Sofia Kitsiou, Associate Professor Medical Genetics, Athens University School of Medicine, “Aghia Sophia” Children’s Hospital, Thivon and Levadias Street, Athens 11 527, Greece; Tel.: +30-2107467463; Fax: +30-2107795553; E-mail: skitsiou@med.uoa.gr
page: 39

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2. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syn­drome. Nat Genet 1997; 16(1): 16:54-62.

3. Blaschke RJ, Rappold GA. SHOX in short stature syndromes. Horm Res 2001; 55(Suppl 1): 21-23.

4. Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Turner syndrome and Xp deletions: clinical and molec­ular studies in 47 patients. J Clin Endocrinol Metab 2001; 86(11): 5498-5508

5. Palka  G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G.  Short arm rearrangements of sex chromosomes with haploinsuffi­ciency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. Clin Genet 2000; 57(6): 449-453.


6. Rao E, Blaschke RJ, Marchini A, Burnett M, Rappold GA. The Leri-Weill and Turner syndrome home­box gene SHOX encodes a cell-type specific transcrip­tional activator. Hum Mol Genet 2001; 15(10): 3083-3091.

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8. Lebo RV, Milunsky J, Higgins AW, Loose B, Huang Xin-Li, Wyandt HE. Symmetric replication of an unstable isodicentric Xq chromosome derived from iso­local maternal sister chromatid recombination. Am J Med Genet 1999; 85(5): 429-437.

9. Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. A molecular study of X isochromosomes: parental ori­gin, centromeric structure, and mechanisms of formation. Am J Hum Genet 1991; 49(5): 1034-1040.

10. Ogata T, Matsuo N, Fukushima Y, Saito M, Nose O, Mizaha N. FISH analysis for apparently simple termi­nal deletions of the X chromosome: identification of hid­den structural abnormalities. Am J Med Gent 2001; 104(4): 307-311.

11. Morizio E, Stuppia L, Gatta D,Fantasia D, Guanciali Fianchi, Rivaldi M. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet 2003; 119(3): 293-296.




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