[Trisomy 5p due to paternal translocation (4;5) (q35;p12)]
(1993)
Journal - Boletín médico del Hospital Infantil de México (MEXICO )
Abstract :
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.
| ISSN : | 0539-6115 |
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| Mesh Heading : | Abnormalities, Multiple Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 4-5 Chromosomes, Human, Pair 12 Humans Infant Karyotyping Male Translocation, Genetic Trisomy genetics |
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| Mesh Heading Relevant : | Chromosomes, Human, Pair 5 genetics genetics genetics |
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