| Autor: |
S, Favetta, R, Artino, G, Ponzio, G, Restagno |
| Rok vydání: |
1992 |
| Předmět: |
|
| Zdroj: |
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 14(5) |
| ISSN: |
0391-5387 |
| Popis: |
Cytogenetic investigations gave evidence of pentasomy X in a 3-year-old female with typical facies and psychomotor retardation. The parents and the grandparents showed a normal karyotype. The clinical symptoms of our case were compared with the other authors, we found a low birth weight, short stature, delayed expressive language, multiple abnormalities of craniofacial skeleton and some minor deformities of the arts. The parental origin of the extra set of X chromosome were determined by the restriction fragment length analysis (RFLPs) using the very polymorphic probes M27beta, L1.28 and St14. These data support the hypothesis of a maternal meiotic double non-disjunction. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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