Article
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin.
American journal of medical genetics - 15 Mar 1996
Tupler R, Pagliano E, Barbierato L, Lanzi G, Maraschio P, Fazzi E
Abstract excerpt
We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings fr...
Topics
- Adult
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Inversion
- Chromosomes, Human, Pair 8
- Dinucleotide Repeats
- Female
- Follow-Up Studies
- Humans
- Male
- Muscles
- Phenotype
- Psychomotor Disorders
- Repetitive Sequences, Nucleic Acid
- Ultrasonography