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Report of a diploid:tetraploid live-born infant^*

Maria das Graças F, Sousa^I+; Lilia María de Azevedo Moreira^II; Lucy Magalhães Freitas^II; Lucy Isabel da Silva Peixoto ^II; Viviane Rummler da Silva^II

^IDepartamento de Pediatria (Hospital Universitário Professor Edgard Santos/Universidade Federal da Bahia)
^IILaboratório de Genética Humana e Citogenética, Departamento de Biologia Geral, Instituto de Biologia, Universidade Federal da Bahia, 40170-290 Salvador, BA, Brasil. Send correspondence to L.M.A.M.
⁺Deceased

ABSTRACT

The present paper reports on a Brazilian child with tetraploid mosaicism and multiple malformations, who lived till eight months. Mental and developmental retardation, hypotony, protruding forehead, anomalous fontanelles, deformed ears, depressed nasal bridge, micrognathia, congenital cardiopathy and transverse palmar crease are clinical findings common to this child and the other cases reported in the literature.

Keywords: diploid:tetraploid; live-born; infant.

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* Before this manuscript was written, M.G.F. Sousa, who had made the first examination of the child, passed away, and this paper pays homage to her special devotion to clinical genetics.