Rivera-Vega MR, Chiñas LES, Madrid CV, Pérez CA, Kofman-Alfaro SH, Cuevas-Covarrubias SA

Language: Spanish
References: 18
Page: 203-207
PDF size: 93.70 Kb.

ABSTRACT

Partial trisomy of chromosome 10q is a very rare and well defined condition characterized by mental retardation and distinct facial features. Only few cases with 10q duplications have been reported. Most cases involve the distal portion of the long arm of the 10 chromosome. They frequently are the result of segregation of balanced translocations. In some cases the extra chromosome material may be associated with deficiency of the other autosome. In the present study, we describe a 17 year-old female with mental retardation and clinical features associated with the distal 10q duplication. There was a family history of miscarriages. FISH analysis using the whole probe of the chromosome 10 and cytogenetic studies was performed according to conventional methods. The kariotype was 46, XX, +10, der (4), t(4;10) (qter ; 24.3-qter). ish (wcp 10+). Clinical findings were similar to those reported in the literature except for the Sprengel anomaly, cubitus valgus and multiples nevus. In conclusion we report a new case of partial trisomy of 10q with additional clinical features not previously observed.

REFERENCES

1. Fuster ML, Miro R, Rigola MA, Perez A, Egozcue J. Familial complex chromosome rearrangement ascertained by in situ hybridization. J Med Genet 1997, 34: 164-166.

2. Speicher MR, Ballard SG, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996M; 12: 368-375.

3. Briscioli V, Floridia G, Rossi E, Selicorni A. Trisomy 10qter confirm by in situ hybridization. J Med Genet 1993; 30: 601-603.

4. Davies J, Jaffé A, Bush A. Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. J Med Genet 1998; 35: 72-74.

5. Yunis JJ, Sanchez O. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr 1974; 84: 567-570.

6. De Michelena MI, Campos PJ. A new case of proximal 10q partial trisomy. J Med Genet 1991; 28: 205-206.

7. Taysi K, Yang V, Monaghan N. Partial trisomy 10q in three unrelated patients. Ann Genet 1983; 26: 79-85.

8. Maruyama K, Koizumi T, Ikeda H. Partial monosomy 10q with partial trisomy 11q due to paternal balanced translocation. J Paediatr Child Health 2001; 37: 198-200.

9. Tuysuz B, Hacihanefioglu S, Silahtaroglu A. Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation. Genet Counsel 2000; 11: 355-361.

10. Suresh S, Suresh I. Partial trisomy of chromosome 10 inherited from a carrier father. Indian J Pediatr 1995; 62: 615-618.

11. Pfeiffer RA, Jünemann A, Lorenz B. Aplasia of the optic nerve in two cases of partial trisomy 10qter. Clin Genet 1995; 48: 183-187.

12. Halpern GJ, Shohat M, Merlob P. Partial trisomy 10q: further delineation of the clinical manifestations involving the segment 10q23›10q24. Ann Genet 1996; 39: 181-183.

13. Van Buggernhout G, Decock PA. Distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11›q223? Genet Couns 1996; 7: 53-59.

14. Migliori MV, Ciaschini AM, Discepoli G. Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3›qter defined by FISH. Ann Genet 2002; 45: 9-12.

15. Devriendt K, Matthijs G, Holvoet M. Triplication of distal chromosome 10q. J Med Genet 1999; 36: 242-245.

16. Boon C, Markello T, Jackson-Cook C. Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature. Clin Genet 1996; 50: 417-421.

17. Lemmers R J, Van der Maarel SM, Van Deutekom CT. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for fascioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Gen 1998; 7: 1207-1214.

18. Van Overveld PG, Lemmers RJ, Deidda G. Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity. Hum Mol Gen 2000; 9: 2879-2884.