Article
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Annales de genetique - 1 Jan 1994
Tupler R, Hoeller A, Pezzolo A, Maraschio P
Abstract excerpt
Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.
Topics
- Chromosome Inversion
- Chromosomes, Human, Pair 22
- Coloboma
- Genetic Variation
- Humans
- Infant, Newborn
- Iris
- Male
- Multigene Family
- Syndrome