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Holoprosencephaly as a result of an unbalanced familial translocation rcp(7;18) (q36;q21)

Cleide L. Borovik^I; Decio Brunoni^{I, III}; Aurea Emy Sato^II; João Norberto Stávale^IV; Sigmar Horst Cardoso^IV; Luiz Carlos Montezzo^IV; Ana Beatriz A. Perez^{I, III}

^IUnidade de Citogenética, Serviço de Laboratório Clínico, Hospital dos Servidores Públicos do Estado de São Paulo, Rua Pedro de Toledo, 1800, 10° andar, 04039 São Paulo, SP, Brasil. Send to C.L.B.
^IIen>Hospital e Maternidade Leonor Mendes de Barros do INAMPS, Av. Celso Garcia, 2477, 03015 São Paulo, SP, Brasildereco
^IIIDisciplina de Genética, Departamento de Morfologia
^IVDepartamento de Anatomia Patológica, Escola Paulista de Medicina, Caixa Postal 20363, 04034 São Paulo, SP, Brasil

ABSTRACT

A newborn male infant with premaxillary agenesis, alobar holoprosencephaly and other congenital malformations is reported. The child had a partial duplication of 18 q and a terminal deletion 7q due to unbalanced segregation of a translocation rcp(7;18) (g36;g21)mat. This case and others from the literature permit to establish an association between del (7gter) and the holoprosencephaly field defect.

Keywords: holoprosencephaly; translocation.

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