Delayed diagnosis of potocki-Shaffer syndrome in a woman with multiple exostoses and mental retardation

Molecular Syndromology

Volumn 2, Issue 6, 2011, Pages 259-261

  Palka, C ^a   Alfonsi, M ^a   Mohn, A ^a   Guanciali Franchi, P ^a   Chiarelli, F ^a   Calabrese, G ^a,b  

^a UNIVERSITY OF CHIETI   (Italy)

^b SPIRITO SANTO HOSPITAL   (Italy)

Author keywords

11p11 deletion; Epilepsy; EXT2; Mental retardation; Potocki Shaffer

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 11P; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CORRELATION ANALYSIS; DELAYED DIAGNOSIS; EPILEPSY; EXOSTOSIS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENETIC DISORDER; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; POTOCKI SHAFFER SYNDROME; PRIORITY JOURNAL;

EID: 84860317125     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000337925     Document Type: Article

References (21)

1. Almind GJ, Brøndum-Nielsen K, Bangsgaard R, Baekgaard P, Grønskov K: 11p microdeletion including WT1 but not PAX6 , presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Mol Cytogenet 2: 6 (2009).
2. Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, et al: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet 58: 734-742 (1996). (Pubitemid 26086663)
3. Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, et al: Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet 13: 409-413 (2005). (Pubitemid 40520930)
4. Chien WH, Sue WC, Kuo PL, Su MH, Lin CL: Potocki-Shaffer syndrome: report of one case. Acta Paediatr Taiwan 44: 242-245 (2003).
5. Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL: Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. Am J Med Genet A 133A:180-183 (2005). (Pubitemid 40279786)
6. Francke U, George DL, Brown MG, Riccardi VM: Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet 19: 197-207 (1977). (Pubitemid 8251232)
7. Gustavson K, Annerén G, Wranne L: Two cases of 11p13 interstitial deletion and unusual clinical features. Clin Genet 26: 247-249 (1984). (Pubitemid 14065303)
8. Hall CR, Wu Y, Shaffer LG, Hecht JT: Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4 . Clin Genet 60: 356-359 (2001). (Pubitemid 33094900)
9. Ligon AH, Potocki L, Shaffer LG, Stickens D, Evans GA: Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome. Am J Med Genet 75: 538-540 (1998).
10. Levenson D: New information, recommendations for Potocki-Shaffer syndrome. Am J Med Genet A 152A:fmx (2010).
11. Lorenz P, Rupprecht E, Tellkamp H: An unusual type of acrocephalosyndactyly with bilateral parietooccipital 'encephalocele,' micropenis, and severe mental retardation. Am J Med Genet 36: 265-268 (1990). (Pubitemid 20193726)
12. McGaughran JM, Ward HB, Evans DG: WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). J Med Genet 32: 823-824 (1995).
13. Potocki L, Shaffer LG: Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2) . Am J Med Genet 62: 319-325 (1996).
14. Romeike BF, Wuyts W: Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. Clin Neuropathol 26: 1-11 (2007). (Pubitemid 46145385)
15. Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F: Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet 45: 581-583 (1993). (Pubitemid 23066420)
16. Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, et al: Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am J Med Genet A 152A:565-572 (2010).
17. Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, et al: Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet 13: 528-540 (2005). (Pubitemid 40691392)
18. Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG: Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet 67: 1327-1332 (2000).
19. Wuyts W, Di Gennaro G, Bianco F, Wauters J, Morocutti C, et al: Molecular and clinical examination of an Italian DEFECT11 family. Eur J Hum Genet 7: 579-584 (1999). (Pubitemid 29378034)
20. Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, et al: Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. Eur J Hum Genet 12: 400-406 (2004). (Pubitemid 38660192)
21. Yamamoto T, Akaboshi S, Ninomiya H, Nanba E: DEFECT 11 syndrome associated with agenesis of the corpus callosum. J Med Genet 38:E5 (2001).