Chromosomal translocation in a mongoloid male child and his normal mother

Beçak, Willy; Beçak, Maria Luiza; Andrade, Joyce D.; Manissadjian, Antranik

doi:10.1590/S0004-282X1963000300002

Abstracts

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.

^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)

SUMMARY

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.

RESUMO

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

1. BEÇAK, W. - Human chromosomes in short term cultures from peripheral blood leucocytes. Rev. Bras. Biol., 21:281-286, 1961.
2. BEÇAK, W. - Desenvolvimento e aplicações da citogenética humana na patologia. Rev. Bras. Cirurg., 44: 298-310, 1962.
3. BENDER, M. A. and GOOCH, P. C. - An unusually long human Y chromosome. Lancet 2:463-464, 1961.
4. BIESELE, J. J.; SCHMID, W; .LEE, C. H. and SMITH, P. M. - Translocation between acrocentric chromosomes in a 46 chromosome mongoloid and his 45 chromosome mother. Ann. J. Human. Gen., 14: 125-134, 1962.
5. BREG, W. R.; MILLER, O. J.; SCHMICKEL, R. D. - Chromosomal translocations in patients with mongolism and in their normal relatives. New Engl. J. Med., 266:845-852, 1962.
6. CARTER, C. O.; HAMERTON, J. L.; POLANI, P. C; GUNALP, A.; WELLER, S. D. U. - Chromosome translocation as a cause of familial mongolism. Lancet 2:678-680, 1960.
7. E.K. J. D.; FALK, V.; BERGMAN, S.; REI-TALU, J. - A male mongoloid with 46 chromosomes. Lancet 2:526-527, 1961.
8. FORSSMAN, H.; LEHMANN, O. - Translocation carrying phenotypically normal males and the Down syndrome. Lancet 1:1286, 1961.
9. FRACCARO, M.; KAIJSER, K.; LINDSTEN, J. - Chromosomal anormalities in father and mongol child. Lancet 1:724-727, 1960.
10. HUNGERFORD, D. A. - Observations on the morphology and behavior of normal chromosomes (in press).
11. LEJEUNE, J.; GAUTIER, M.; TURPIN, R. - Les chromosomes humaines en culture de tissues. Compt. rend. Acad. Sc. (Paris) 248:602-603, 1959.
12. PENROSE, L. S.; ELLIS, J. R.; DELHANIY, J. D. - Chromosomal translocation in mongolism and in normal relatives. Lancet 2:409-410, 1960.
13. POLANI, P. E.; BRIGGS, J. H.; FORD, C. E.; CLARKE, C. M. - A mongol girl with 46 chromosomes. Lancet 1:721-724, 1960.

Chromosomal translocation in a mongoloid male child and his normal mother

Willy Beçak^I; Maria Luiza Beçak^I; Joyce D. Andrade^I; Antranik Manissadjian^II

Publication Dates

Publication in this collection
21 Aug 2013
Date of issue
Sept 1963

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

[1] 1. BEÇAK, W. - Human chromosomes in short term cultures from peripheral blood leucocytes. Rev. Bras. Biol., 21:281-286, 1961.

[2] 2. BEÇAK, W. - Desenvolvimento e aplicações da citogenética humana na patologia. Rev. Bras. Cirurg., 44: 298-310, 1962.

[3] 3. BENDER, M. A. and GOOCH, P. C. - An unusually long human Y chromosome. Lancet 2:463-464, 1961.

[4] 4. BIESELE, J. J.; SCHMID, W; .LEE, C. H. and SMITH, P. M. - Translocation between acrocentric chromosomes in a 46 chromosome mongoloid and his 45 chromosome mother. Ann. J. Human. Gen., 14: 125-134, 1962.

[5] 5. BREG, W. R.; MILLER, O. J.; SCHMICKEL, R. D. - Chromosomal translocations in patients with mongolism and in their normal relatives. New Engl. J. Med., 266:845-852, 1962.

[6] 6. CARTER, C. O.; HAMERTON, J. L.; POLANI, P. C; GUNALP, A.; WELLER, S. D. U. - Chromosome translocation as a cause of familial mongolism. Lancet 2:678-680, 1960.

[7] 7. E.K. J. D.; FALK, V.; BERGMAN, S.; REI-TALU, J. - A male mongoloid with 46 chromosomes. Lancet 2:526-527, 1961.

[8] 8. FORSSMAN, H.; LEHMANN, O. - Translocation carrying phenotypically normal males and the Down syndrome. Lancet 1:1286, 1961.

[9] 9. FRACCARO, M.; KAIJSER, K.; LINDSTEN, J. - Chromosomal anormalities in father and mongol child. Lancet 1:724-727, 1960.

[10] 10. HUNGERFORD, D. A. - Observations on the morphology and behavior of normal chromosomes (in press).

[11] 11. LEJEUNE, J.; GAUTIER, M.; TURPIN, R. - Les chromosomes humaines en culture de tissues. Compt. rend. Acad. Sc. (Paris) 248:602-603, 1959.

[12] 12. PENROSE, L. S.; ELLIS, J. R.; DELHANIY, J. D. - Chromosomal translocation in mongolism and in normal relatives. Lancet 2:409-410, 1960.

[13] 13. POLANI, P. E.; BRIGGS, J. H.; FORD, C. E.; CLARKE, C. M. - A mongol girl with 46 chromosomes. Lancet 1:721-724, 1960.