Trisomy 5p: a variable phenotype

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. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Mass. General Hospital, Boston, MA J F Corder, W

A Mille, R M Liberfar, L Atkin & L B Holmes Authors * J F Corder View author publications You can also search for this author inPubMed Google Scholar * W A Mille View author

publications You can also search for this author inPubMed Google Scholar * R M Liberfar View author publications You can also search for this author inPubMed Google Scholar * L Atkin View

author publications You can also search for this author inPubMed Google Scholar * L B Holmes View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND

PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Issue Date: 01 April 1977 * DOI: https://doi.org/10.1203/00006450-197704000-00929 SHARE THIS ARTICLE Anyone you share the

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