Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features

Ferreira, A.P.S.; Mazzucatto, L.F.; Ramos, E.S.; Pina-Neto, J.M.

doi:10.1590/S0100-84551996000400023

Abstract

A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.

Trisomy 13 mosaicism; skin fibroblasts; psychomotor retardation; pigmentary dysplasia; dysmorphic features

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Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features

A.P.S. Ferreira; L.F. Mazzucatto; E.S. Ramos; J.M. Pina-Neto

Departamento de Genética e Matemática Aplicada à Biologia, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto, SP, Brasil. Send correspondence to J.M.P.-N.

ABSTRACT

A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.

Keywords: Trisomy 13 mosaicism; skin fibroblasts; psychomotor retardation; pigmentary dysplasia; dysmorphic features.

Flannery, D.B., Byrd, J.R., Freeman, W.E. and Perlman, S.A. (1985). Hypomelanosis of Ito: a cutaneous marker of chromosomal mosaicism. Am. J. Med. Genet. 37: A93.
Fujimoto, A., Lin, M.S., Korula, S.R. and Wilson, M.G. (1985). Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of balanced translocation carrier mother. Am. J. Med. Genet. 22: 333-342.
Hall, J.C. (1988). Review and hypothesis: Somatic mosaicism - Observations related to clinical genetics. Am. J. Hum. Genet. 43: 355-363.
Happle, R. (1993a). Pigmentary patterns associated with human mosaicism: A proposed classification. Eur. J. Dermatol, 3: 170-174.
Happle, R. (1993b). Mosaicism in human skin: Understanding the patterns and mechanisms. Arch. Dermatol, 129: 1460-1470.
Hunter, A.G.W., Clifford, B. and Cox, D.M. (1985). The characteristic physiognomy and tissue specific karyotype in the Pallister-Killian syndrome. Clin. Genet. 28: 47-53.
⁷
Ishikawa, T., Kanayama, M., Sujiyama, K., Katoh, T. and Wada, Y. (1985). Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities. Brain Dev. 7: 45-49.
Miller, C.A. and Parker, W.D. (1985). Hypomelanosis of Ito: Association with chromosomal abnormality. Neurology 35: 607-610.
Ohashi, H., Tsukahara, M., Murano, I., Naritomi, K., Nishioka, K., Miyake, S. and Kajii, T. (1992). Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases. Am. J. Med. Genet. 43: 716-721.
Pagon, R.A., Hall, J.G., Davenport, J.A., Norwood, T.H. and Hoehn, H.W. (1979). Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am. J. Hum. Genet. 31: 54-61.
Shih, L., Hsu, L.Y., Sugansky, E. and Kushwick, T. (1974). Trisomy 18 mosaicism in two siblings. Clin. Genet, 5: 420-427.
Thomas, I.T., Frias, J.L., Cantu, E.S., Lafer, C.Z., Flannery, D.B. and Graham, J.G. (1989). Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am. J. Hum. Genet. 45: 193-205.
Turleau, C., Tailard, E, Doussau de Bazignan, M., Delepine, N., Desbois, J.C. and de Grouchy, J.C. (1986). Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum. Genet. 74: 185-187.
Woods, C.G., Bankier, A., Curry, J., Sheffield, I.J., Slaney, S.F., Smith, K., Voullaire, L. and Wellesley, D. (1994). Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J. Med. Genet. 31: 694-701.

Publication Dates

Publication in this collection
26 Oct 2006
Date of issue
1996

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] Flannery, D.B., Byrd, J.R., Freeman, W.E. and Perlman, S.A. (1985). Hypomelanosis of Ito: a cutaneous marker of chromosomal mosaicism. Am. J. Med. Genet. 37: A93.

[2] Fujimoto, A., Lin, M.S., Korula, S.R. and Wilson, M.G. (1985). Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of balanced translocation carrier mother. Am. J. Med. Genet. 22: 333-342.

[3] Hall, J.C. (1988). Review and hypothesis: Somatic mosaicism - Observations related to clinical genetics. Am. J. Hum. Genet. 43: 355-363.

[4] Happle, R. (1993a). Pigmentary patterns associated with human mosaicism: A proposed classification. Eur. J. Dermatol, 3: 170-174.

[5] Happle, R. (1993b). Mosaicism in human skin: Understanding the patterns and mechanisms. Arch. Dermatol, 129: 1460-1470.

[6] Hunter, A.G.W., Clifford, B. and Cox, D.M. (1985). The characteristic physiognomy and tissue specific karyotype in the Pallister-Killian syndrome. Clin. Genet. 28: 47-53.

[7] ⁷
Ishikawa, T., Kanayama, M., Sujiyama, K., Katoh, T. and Wada, Y. (1985). Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities. Brain Dev. 7: 45-49.

[8] Miller, C.A. and Parker, W.D. (1985). Hypomelanosis of Ito: Association with chromosomal abnormality. Neurology 35: 607-610.

[9] Ohashi, H., Tsukahara, M., Murano, I., Naritomi, K., Nishioka, K., Miyake, S. and Kajii, T. (1992). Pigmentary dysplasias and chromosomal mosaicism: Report of 9 cases. Am. J. Med. Genet. 43: 716-721.

[10] Pagon, R.A., Hall, J.G., Davenport, J.A., Norwood, T.H. and Hoehn, H.W. (1979). Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am. J. Hum. Genet. 31: 54-61.

[11] Shih, L., Hsu, L.Y., Sugansky, E. and Kushwick, T. (1974). Trisomy 18 mosaicism in two siblings. Clin. Genet, 5: 420-427.

[12] Thomas, I.T., Frias, J.L., Cantu, E.S., Lafer, C.Z., Flannery, D.B. and Graham, J.G. (1989). Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am. J. Hum. Genet. 45: 193-205.

[13] Turleau, C., Tailard, E, Doussau de Bazignan, M., Delepine, N., Desbois, J.C. and de Grouchy, J.C. (1986). Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum. Genet. 74: 185-187.

[14] Woods, C.G., Bankier, A., Curry, J., Sheffield, I.J., Slaney, S.F., Smith, K., Voullaire, L. and Wellesley, D. (1994). Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J. Med. Genet. 31: 694-701.