Article
Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).
American journal of medical genetics - 22 Aug 1997
Mickelson E C, Robinson W P, Hrynchak M A, Lewis M E
Abstract excerpt
We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date...
Topics
- Angelman Syndrome
- Child
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Developmental Disabilities
- Diagnosis, Differential
- Female
- Hand Deformities, Congenital
- Humans
- Phenotype