Girl With Partial Turner Syndrome and Absence Epilepsy

Pediatric Neurology

Volumn 38, Issue 4, 2008, Pages 289-292

  Puusepp, Helen ^a   Zordania, Riina ^b   Paal, Mare ^b   Bartsch, Oliver ^c   Õunap, Katrin ^a,d  

^a UNIVERSITY OF TARTU   (Estonia)

^b TALLINN CHILDREN S HOSPITAL   (Estonia)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d TARTU UNIVERSITY HOSPITAL   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

ABSENCE; ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME XP; DYSCHONDROSTEOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DUPLICATION; GENE OVEREXPRESSION; HOMEOBOX; HUMAN; KARYOTYPE; ONLINE ANALYSIS; PANIC; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TURNER SYNDROME; X CHROMOSOME;

ADOLESCENT; EPILEPSY, ABSENCE; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; TURNER SYNDROME;

EID: 40749134153     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.11.008     Document Type: Article

References (15)

1. Elsheikh M., Dunger D.B., Conway G.S., and Wass J.A. Turner's syndrome in adulthood. Endocr Rev 23 (2002) 120-140
2. Ferguson-Smith M.A. Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 39 (1965) 142-155
3. Rao E., Weiss B., Fukami M., et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16 (1997) 54-63
4. Ellison J.W., Wardak Z., Young M.F., et al. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 6 (1997) 1341-1347
5. Ross J.L., Roeltgen D., Kushner H., Wei F., and Zinn A.R. The Turner syndrome-associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet 67 (2000) 672-681
6. Patsalis P.C., Kousoulidou L., Mannik K., et al. Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization. Eur J Hum Genet 15 (2007) 162-172
7. Ballabio A., Bardoni B., Carrozzo R., et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86 (1989) 10001-10005
8. Rappold G.A., Fukami M., Niesler B., et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 87 (2002) 1402-1406
9. Ogata T., and Matsuo N. Sex chromosome aberrations and stature: Deduction of the principal factors involved in the determination of adult height. Hum Genet 91 (1993) 551-562
10. Zinn A.R., and Ross J.B. Molecular analysis of genes on Xp controlling Turner syndrome and premature ovarian failure (POF). Semin Reprod Med 19 (2001) 141-146
11. Boycott K.M., Parslow M.I., Ross J.L., Miller I.P., Bech-Hansen N.T., and MacLeod P.M. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. Am J Med Genet 122 (2003) 139-147
12. Jones K.L. Leri-Weill dyschondrosteosis. In: Smith D., and Jones K.L. (Eds). Smith's recognizable patterns of human malformations. 6th ed. (2006), Elsevier Saunders, Philadelphia 510-511
13. Kokalj-Vokac N., Marcun-Varda N., Zagorac A., et al. Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. Eur J Pediatr 163 (2004) 658-663
14. Orellana C., Badia L., Martinez F., et al. Recombinant X chromosome in a prenatal diagnosis. Cytogenet Genome Res 112 (2006) 337-340
15. Mohandas T., Geller R.L., Yen P.H., et al. Cytogenetic and molecular studies on a recombinant human X chromosome: Implications for the spreading of X chromosome inactivation. Proc Natl Acad Sci USA 84 (1987) 4954-4958