Martínez A, Ramos S, González-del Angel A, Alcántara MÁ, Molina B, Carnevale A

Language: English
References: 15
Page: 444-448
PDF size: 81.29 Kb.

ABSTRACT

We report on a female patient, with a de novo mosaicism for a structural rearrangement producing trisomy 2p21→pter and monosomy 8p21→pter. GTG bands and fluorescence in situ hybridization (FISH) in lymphocytes identified: mos 46, XX, der (8) (8qter → 8p21: : 2p21→ pter) , 9qh+[52]/ 46,XX,9qh+[82]. Fibroblasts showed the same cell lines in 15 and 12 cells respectively. DNA profiling with fourteen autosomal STR markers, did not reveal a chimerism status in our patient. She did not present the classical phenotype described for trisomy 2p and for monosomy 8p probably due to approximately 60% of the patient’s cells being normal. The abnormality probably arose in a very early stage of development during the first post-fertilization divisions with a non-sister chromatid exchange event between chromosomes 2 and 8 producing three cellular clones: a normal clone, one with trisomy 2p and monosomy 8p and a third with monosomy 2p and trisomy 8p. Only the first two cell lines were found in both lymphocytes and fibroblasts of hypopigmented skin; the third may have been lost or limited to other tissues.

REFERENCES

1. Zaslav A-L, Fallet S, Blumenthal D, Jacob J, Fox J. Mosaicism with a normal cell line and an unbalanced structural rearrangement. Am J Med Genet 1999; 82: 15-19.

2. Ruitberg CM, Reeder DJ, Butler JM. STRBase: a short tandem repeat DNA database for the human identity testing community. Nucleic Acids Res 2001; 29: 320-2.

3. Krankel W, Chan A, Corringham RE, Shepherd S, Rearden A, Wang-Rodríguez J. Detection of chimerism and early engraftment after allogenic peripheral blood stem cell or bone marrow transplantation by short tandem repeats. Am J Hematol 1996; 52: 281-287.

4. Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, et al. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am J Med Genet 2000; 91: 74-82.

5. Glass IA, Trenholme A, Bailey RJ, Cotter PD. Mild phenotype in two siblings with distal monosomy 12p13.31 pter. Clin Genet 2000; 57: 401-5.

6. Patel J, Pearson J, Willatt L, Andrews T, Beach R, Green A. Germline duplication of chromosome 2p and neuroblastoma. J Med Genet 1997; 34: 949-51.

7. Roggenbuck J, Fink J, Mendelsohn N. Unique case of trisomy 2p24.3-pter with no associated monosomy. Am J Med Genet 2001; 101: 50-4.

8. Bai-Lin W, Schneider G, Sabatino D, Bozovic L, Cao B, Korf B. Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 1996; 62: 77-83.

9. Fryns JP, Kleczkowska A, Vogels A, Van Den Berghe H. Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter→8p23.1:). Ann Génét 1989; 32: 171-3.

10. Claeys I, Holvoet M, Eyskens B, Adriaensens P, Gewillig M, Fryns JP, and Devriendt K. A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet 1997; 74: 515-20.

11. Dobnys W, Dewld G, Carlson R, Mair D, Michels V. Deficiency of chromosome 8p21.1-8pter: Case report and review of the literature. Am J Med Genet 1985; 22: 125-34.

12. Pecile V, Petroni MG, Fertz MC, Filippi G. Deficiency of distal 8p-: report of two cases and review of the literature. Clin Genet 1990; 37: 271-8.

13. Pettenati M, Rao N, Johnson C, Hayworth R, Crandall K, Huff O, et al. Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 1992; 89: 602-6.

14. Zafra de la Rosa G, Venegas-Vega CA, Monroy N, Contreras- Bucio G, Friedrich U, Houman M, et al. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular análisis with delineation of the phenotype. Am J Med Genet 2005; 136: 259-64.

15. Digilio MC. Deletion 8p syndrome. Am J Med Genet 1998; 75: 534-6.