Rett syndrome in a boy with a 47,XXY karyotype [3]

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1781-1785

  Schwartzman, J S ^a   Zatz, M ^a   Dos Reis Vasquez, L ^a   Gomes, R R ^a   Koiffmann, C P ^a   Fridman, C ^a   Otto, P G ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL FEATURE; DISOMY; GENE MUTATION; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPE 47,XXY; LETTER; MALE; NONDISJUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; X CHROMOSOME INACTIVATION;

EID: 0033358539     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302424     Document Type: Letter

References (43)

1. Y Alembick B Dott C Stoll Rett-like syndrome in fragile X syndrome Genet Couns 6 1995 207 210
2. RC Allen HY Zoghbi AB Moseley HM Rosenblatt JW Belmont Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation Am J Hum Genet 51 1992 1229 1239
3. N Archidiacono M Lerone M Rocchi M Anvret T Ozcelik U Francke G Romeo Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations Hum Genet 86 1991 604 606
4. P Camus N Abbadi M-C Perrier M Chéry S Gilgenkrantz X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe Hum Genet 97 1996 247 250
5. HJ Christen F Hanefeld Male Rett variant Neuropediatrics 26 1995 81 82
6. M Coleman Is classical Rett syndrome ever present in males? Brain Dev 12 1990 31 32
7. LS Correa-Cerro H Rivera AI Vasquez Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito J Med Genet 34 1997 161 163
8. BT Darras U Francke A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male Nature 329 1987 556 558
9. Easthaugh P, Smith L, Leonard H (1996) Trisomy 21 associated with Rett syndrome phenotype. Paper presented at the World Congress on Rett Syndrome, Gothenburg, Sweden, 30 August-1 September
10. AL Edwards HÁ Hammond L Jin CT Cakey R Chakraborty Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups Genomics 12 1992 241 253
11. O Eeg-Olofsson AGH Al-Zuhair AS Teebi M Zaki AS Daoud A boy with Rett syndrome? Brain Dev 12 1990 529 532
12. KA Ellison EJ Roth ERB McCabe AC Chinault HY Zoghbi Isolation of a yeast artificial chromosome contig spanning the chromosomal translocation breakpoint in a patient with Rett syndrome Am J Med Genet 47 1993 1124 1134
13. CC Glenn S Saitoh MTC Jong MM Filbrandt U Surti DJ Driscoll RD Nicholls Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene Am J Hum Genet 58 1996 335 346
14. B Hagberg Rett syndrome: clinical peculiarities and biological mysteries Acta Paediatr 84 1995 971 976
15. Herder GA, Skjeldal O, Hagberg B, Tranebjærg L (1996) Congenital Rett syndrome phenotype-interstitial deletion chromosome 13 and retinoblastoma. Paper presented at the World Congress on Rett syndrome, Gothenburg, Sweden, 30 August-1 September
16. H Journel J Melki C Turleau A Munnich J Grouchy Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X Am J Med Genet 35 1990 142 147
17. T Kishino M Lalande J Wagstaff UBE3A/E6AP mutations cause Angelman syndrome Nat Genet 15 1997 70 73
18. MH Kormann-Bortolotto CG Woods SH Green T Webb X-inactivation in girls with Rett syndrome Clin Genet 42 1992 296 301
19. ACV Krepischi F Kok PG Otto X chromosome inactivation patterns in patients with Rett syndrome Hum Genet 102 1998 319 321
20. I Lorda-Sanchez F Binkert M Maechler WP Robinson A Schinzel Reduced recombination and paternal age effect in Klinefelter syndrome Hum Genet 89 1992 524 530
21. PS Martinho PG Otto F Kok A Diament MJ Marques-Dias CH Gonzalez In search of a genetic basis for the Rett syndrome Hum Genet 86 1990 131 134
22. T Matsuura JS Sutcliffe P Fang R-J Galjaard Y Jiang CS Benton JM Rommens De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome Nat Genet 15 1997 74 173
23. BR Migeon MA Dunn G Thomas BJ Schmeckpeper S Naidu Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome Am J Hum Genet 56 1995 647 653
24. AK Naumova RM Plenge LM Bird M Leppert K Morgan HF Willard C Sapienza Heritability of X chromosome-inactivation phenotype in a large family Am J Hum Genet 58 1996 1111 1119
25. E Pegoraro RN Schimke K Arahata Y Hayashi H Stern H Marks MR Glasberg Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females Am J Hum Genet 54 1994 989 1003
26. N Philip M Auger JF Mattei F Giraud Achondroplasia in sibs of normal parents J Med Genet 25 1988 857 859
27. M Philippart The Rett syndrome in males Brain Dev 12 1990 33 36
28. VM Riccardi The Rett syndrome: genetics and the future Am J Med Genet Suppl 24 1986 389 402
29. C Schanen U Francke A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map Am J Hum Genet 63 1998 267 269
30. M Schmidt D Du Sart Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases Am J Med Genet 42 1992 161 169
31. M Seabright A rapid banding technique for human chromosomes Lancet 2 1971 971 972
32. N Sirianni S Naidu JL Pereira RF Pillotto EP Hoffman Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28 Am J Hum Genet 63 1998 1552 1558
33. DR Sumita M Vainzof S Campiotto AM Cerqueira M Cánovas PA Otto MR Passos-Bueno Absence of correlation between skewed X inactivation in blood and serum creatine-kinase (CK) levels in Duchenne/Becker female carriers Am J Med Genet 80 1998 356 361
34. GH Thomas High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders Am J Hum Genet 58 1996 1364 1368
35. M Topçu H Topaglu Y Renda M Berket G Turani The Rett syndrome in males Brain Dev 13 1991 62
36. E Trevathan S Naidu The clinical recognition and differential diagnosis of Rett syndrome J Child Neurol 3 Suppl 1988 S6 S16
37. SG Vorsanova IA Demidova V Yu Ulas IV Soloviev LZ Kazantzeva B Yurov Yu Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases Neuroreport 8 1996 187 189
38. Wahlström J, Uller A, Tonnby B, Darnfors C, Martinsson T, Vujuic M (1996) Congenital Rett Syndrome phenotype-deletion short arm chromosome 3. Paper presented at the World Congress on Rett Syndrome, Gothenburg, Sweden, 30 August-1 September
39. T Webb E Watkiss A comparative study of X inactivation in Rett syndrome probands and control subjects Clin Genet 49 1996 189 195
40. T Webb E Watkiss CG Woods Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome Clin Genet 44 1993 236 240
41. DJ Wolff S Schwartz T Montgomery JL Zackowski Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype Am J Med Genet 77 1998 401 404
42. F Xiang Z Zhang A Clarke JL Pereira S Naidu S Budden CD Delozier-Blanchet Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq J Med Genet 35 1998 297 300
43. HY Zoghbi AK Percy RJ Schultz C Fill Patterns of X chromosome inactivation in Rett syndrome Brain Dev 12 1990 131 135