Article
[A case of 3q21-qter trisomy and 3p25-pter monosomy syndrome].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Migliori V, Ferrari F, Giamagli C A, DI Stefano P, Galanti E, Guastaferro N
Abstract excerpt
A new case of chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome is reported in a girl born to a mother carrier of a pericentric inversion inv (3) (p25 q21). The patient shows several clinical features that can be well superimposed to those previously described.
Topics
- Chromosome Inversion
- Chromosomes, Human, 1-3
- Female
- Humans
- Infant, Newborn
- Phenotype
- Syndrome
- Trisomy