[Trisomy 5p due to paternal translocation (4;5) (q35;p12)].
A ten month-old boy had a 5p trisomy secondary to a paternal t(4;5) (p35;p12) translocation. The main stigmata were macrocranium, hydrocephaly, coloboma of the right iris, atrial septal defect, talipes equinovarus, and psychomotor retardation. Overall, the clinical picture was characteristic of the 5p trisomy that includes the band 5p13.
Menéndez
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I
Departamento de Genética Clínica, Hospital Pediátrico Docente William Soler, La Habana, Cuba.
Casaña
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H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D002881:Chromosomes, Human, Pair 12; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000235:genetics*