Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter. 1980

L Pagano, and G Fioretti, and M Vetrella, and E Risolo, and C Casullo, and A Celona, and S Renda, and A Rinaldi, and V Ventruto

The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D002900 Chromosomes, Human, 1-3 The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3. Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial

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