Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype

Journal Article · Wed Oct 16 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.3.CO;2-J· OSTI ID:508253

Bielanska, M M; Khalifa, M M; Duncan, A M.V. ^[1]

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1. Queen`s Univ., Kingston, Ontario (Canada)

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. Fluorescence in situ hybridization (FISH) was used to demonstrate that the supernumerary marker chromosome identified in the patient`s fibroblasts was an isochromosome 12p. This study broadens the spectrum of PKS phenotype. It also illustrates the usefulness of fluorescence in situ hybridization in diagnosis of patients with chromosomal abnormalities and mild or atypical clinical findings. 40 refs., 2 figs., 1 tab.

• OSTI ID: 508253
• Journal Information: American Journal of Medical Genetics, Vol. 65, Issue 2; Other Information: PBD: 16 Oct 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
MENTAL DISORDERS
PHENOTYPE
KARYOTYPE
DIAGNOSIS
HUMAN CHROMOSOME 12
MOSAICISM
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
ANEUPLOIDY
TISSUE DISTRIBUTION
IN-SITU HYBRIDIZATION
FLUORESCENCE