69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy |
| |
| Authors: | F Galán F Orts M S Aguilar F Clemente C Loeda I Aranda B Jimenez Cobo |
| |
| Affiliation: | Departamento de Pediatría, Facultad de Medicina, Alicante, Spain. |
| |
| Abstract: | A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy). |
| |
| Keywords: | |
|
|
