Abstract
The availability of differential staining techniques has led to the identification of many new chromosome abnormalities. We have recently evaluated three unrelated families in which five children have been handicapped to varying degrees as a result of a duplication of the short aim of chromosome 5.
In each of two families, one parent had a balanced chromosome translocation which was the basis for the chromosome imbalance in four children. Another infant was the first affected family member.
In Family G. there are two retarded females with no malformations and a partial Sp trisomy; i.e., 46, XX, der(8), t(5;8) (p13;p23) mat. In Family T. a brother and sister had multiple congenital anomalies. The karyotype in the girl showed 46, XX, der(9), t(5;9)(pl3;p24) pat. in Family E. a male infant with hypotonia and club feet had a chromosome complement of 47, XY, Sp-, +i(5p) e.g. centric fission of chromosome 5 with duplication of the short arm.
These five children are all mentally retarded, but their associated physical findings vary from no abnormalities to multiple malformations. Possible explanations for this phenotypic discrepancy include varying degrees of duplication of chromosome 5 and the presence of an associated chromosome deletion in the unbalanced translocation. The child with the isochromosome 5p may be more indicative of the 5p trisomy syndrome.
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Corder, J., Mille, W., Liberfar, R. et al. TRISOMY 5p: A VARIABLE PHENOTYPE. Pediatr Res 11, 525 (1977). https://doi.org/10.1203/00006450-197704000-00929
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DOI: https://doi.org/10.1203/00006450-197704000-00929
