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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.21 no.3 São Paulo Sept. 1963 

Chromosomal translocation in a mongoloid male child and his normal mother



Willy BeçakI; Maria Luiza BeçakI; Joyce D. AndradeI; Antranik ManissadjianII

IFrom the Genetic Section of Instituto Butantan
IIDepartment of Pediatries, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (Prof. Pedro de Alcântara)




The presence of a translocation 21/13-15 is related in 46 chromosomes, karyotypes of a mongoloid male child (Down's syndrome). The abnormal chromosome was transmitted by the mother of the patient. The possible deficiency of translocated chromosome 21 and the possible origin of the anomaly in the family was discussed and the presence of a markedly large Y chromosome in the karyotypes of the patient as in those of his father was also noted.


É relatada a presença de uma translocação 21-13/15 nos cariótipos com 46 cromossomos de um menino mongolóide (síndrome de Down), sendo o cromossomo anômalo transmitido pela mãe do paciente. São discutidas a possível deficiência do cromossomo 21 translocado, e a possivel origem da anomalia na família. É assinalada a presença de um cromossomo Y mar-cadamente grande, tanto nos cariótipos do paciente como nos do seu pai.



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Secção de Genética, Instituto Butantan - Caixa Postal 65 - São Paulo, Brasil

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