Article
Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1998
Grammatico P, Roccella M, De Bernardo C, Roccella F, Grammatico B, Rinaldi R, Del Porto G
Abstract excerpt
We performed chromosome microdissection in order to define the "de novo" rearrangement observed in a female patient affected by: frontal microgyria, mild psychomotor retardation, thoracic scoliosis, XIIth rib asymmetry and facial dysmorphisms. Through the use of the micro-FISH we evidenced a dele...
Topics
- Adolescent
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 3
- Craniofacial Abnormalities
- Female
- Gene Rearrangement
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability
- Phenotype
- Physical Chromosome Mapping
- Syndrome