
doi: 10.1007/bf00273429
pmid: 5046906
3 cases with a Do-chromosome, designated by autoradiography as a No. 14, are presented by the authors. The first case was a mentally retarded boy with minor malformations. Cases 2 and 3 had normal phenotypes and were detected by cytogenetic investigation of family members of a mentally retarded boy with a ring G chromosome. The 14 p-was the only caryotype abnormality in the father (case 2). It was associated with other abnormalities in the daughter (case 3) who had a D/G translocation of the centric fusion type (46, XX, 15-,21-, t(15p21p)+, t(15q21q)+).
Chromosome Aberrations, Male, Epilepsy, Chromosome Disorders, Pedigree, Cytogenetics, Phenotype, Intellectual Disability, Karyotyping, Blood Group Antigens, Chromosomes, Human, 21-22 and Y, Autoradiography, Humans, Female, Child, Chromosomes, Human, 13-15
Chromosome Aberrations, Male, Epilepsy, Chromosome Disorders, Pedigree, Cytogenetics, Phenotype, Intellectual Disability, Karyotyping, Blood Group Antigens, Chromosomes, Human, 21-22 and Y, Autoradiography, Humans, Female, Child, Chromosomes, Human, 13-15
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