Article
Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.
American journal of medical genetics - 16 Oct 1996
Bielanska M M, Khalifa M M, Duncan A M
Abstract excerpt
Pallister-Killian syndrome (PKS) is a rare disorder characterized by a specific combination of anomalies, mental retardation and mosaic presence of a supernumerary isochromosome 12p which is tissue-limited. We report an atypical case of PKS with a mild phenotype. Flourescence in situ hybridizatio...
Topics
- Adult
- Centromere
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 12
- Developmental Disabilities
- Eyebrows
- Face
- Female
- Fibroblasts
- Hearing Loss
- Humans
- Hypertelorism
- Hypopigmentation
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping