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.
| Original language | English |
|---|---|
| Pages (from-to) | 319-322 |
| Number of pages | 4 |
| Journal | Clinical Genetics |
| Volume | 12 |
| Issue number | 6 |
| Publication status | Published - 1977 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Vignetti, P., Chessa, L., Bruni, L., Ferrante, E., & Dallapiccola, B. (1977). Translocation Y/5 resulting in Cri du Chat syndrome. Clinical Genetics, 12(6), 319-322.