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

Abstract

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.

Authors:
; ;  [1]
  1. Queen`s Univ., Kingston, Ontario (Canada)
Publication Date:
OSTI Identifier:
508253
Resource Type:
Journal Article
Journal Name:
American Journal of Medical Genetics
Additional Journal Information:
Journal Volume: 65; Journal Issue: 2; Other Information: PBD: 16 Oct 1996
Country of Publication:
United States
Language:
English
Subject:
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

Citation Formats

Bielanska, M M, Khalifa, M M, and Duncan, A M.V. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. United States: N. p., 1996. Web. doi:10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.3.CO;2-J.
Bielanska, M M, Khalifa, M M, & Duncan, A M.V. Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype. United States. https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.3.CO;2-J
Bielanska, M M, Khalifa, M M, and Duncan, A M.V. 1996. "Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype". United States. https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.3.CO;2-J.
@article{osti_508253,
title = {Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype},
author = {Bielanska, M M and Khalifa, M M and Duncan, A M.V.},
abstractNote = {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.},
doi = {10.1002/(SICI)1096-8628(19961016)65:2<104::AID-AJMG4>3.3.CO;2-J},
url = {https://www.osti.gov/biblio/508253}, journal = {American Journal of Medical Genetics},
number = 2,
volume = 65,
place = {United States},
year = {Wed Oct 16 00:00:00 EDT 1996},
month = {Wed Oct 16 00:00:00 EDT 1996}
}