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Presumed Translocation of Chromosome Number 2 and One of the D Group

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Abstract

THE translocation of human chromosomes was reported in 1959 by Turpin and associates.1 Their patient was an infant with multiple anomalies of bone. A chromosome count of 45 was found in cells of skin from three different biopsies. Several karyotypes demonstrated an absence of one of the small metacentric chromosomes. The authors suggested that it represented a 13/22 chromosomal translocation. No similar case has at this time been found in the medical literature.

Chromosomal translocation in patients with mongolism, and in the relatives of mongoloid children has been reported many times since it was first recorded by Polani and associates2 in 1960. In most instances the translocation is presumed to be 15/21.3–10 Presumed translocations 21/21 and 21/22 have also been suggested.3, 7, 11 Hamerton and associates7 reported the possible presence of an isochromosome for the long arm of chromosome 21 in a father and in his son, both of whom probably had chromosomal mosaicism. They suggested a similar explanation for the abnormality reported by Fraccaro, Kaijser, and Lindsten.11 Gray, Mutton, and Ashby12 suggested pericentric inversion of a maternal 21 chromosome as an explanation for a closely similar abnormality observed in the karyotypes of a mother and her mongoloid daughter.

Chromosomal translocation in group D (13–15) in a patient with Klinefelter’s syndrome was described in 1960 by Lejeune, Turpin, and Decourt.13 Family studies involving a group D (13–15) chromosomal translocation have been reported by Walker and Harris;14, 15 and by Jagiello,16 who reported associated mental retardation, spastic diplegia, and talipes equinovarus.


 

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