Article
[Pentasomy X: a clinical case report].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Favetta S, Artino R, Ponzio G, Restagno G
Abstract excerpt
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 st...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Female
- Humans
- Karyotyping
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Sex Chromosome Aberrations
- Syndrome
- X Chromosome