Translocation Y/5 resulting in Cri du Chat syndrome |
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| Authors: | P. Vignetti Luciana Chessa Lida Bruni E. Ferrante B. Dallapiccola |
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| Affiliation: | Centro di Citogenetica, Clinica Pediatrica;Cattedra di Genetica Medica, Universitàdi Roma, Italy |
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| Abstract: | ![]()
A case of 45,X,del(5)(p14/45,X,t(Y;5)(q11;p14) mosaicism is described. The patient displays the clinical features of the Cri du Chat syndrome, together with gross malformation of the distal left arm. The presence of male sex development is consistent with the location of factor(s) controlling the male sex determination in the paracentromeric area of the Y chromosome. |
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