Article
High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement.
American journal of medical genetics - 1 Oct 1991
Qumsiyeh M B, Wilroy R S, Peeden J N, Tharapel A T
Abstract excerpt
Molecular cytogenetic techniques were used to delineate a subtle chromosome rearrangement in an infant with growth and psychomotor retardation, abnormal scalp hair pattern, narrow palpebral fissures, broad nasal bridge, bulbous nose, small nostrils, thin lips in a cupid's bow configuration, bilat...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 8
- DNA Probes
- Developmental Disabilities
- Female
- Humans
- Immunoglobulin Heavy Chains
- Infant, Newborn
- Male
- Nucleic Acid Hybridization
- Phenotype
- Translocation, Genetic