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Tetrasomy 12p (Pallister-Killian syndrome)


Schinzel, Albert (1991). Tetrasomy 12p (Pallister-Killian syndrome). Journal of Medical Genetics, 28(2):122-125.

Abstract

First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola, the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, Killian-Teschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21qq. It is one of the chromosome aberrations in which clinical recognition is important in order to initiate the necessary cytogenetic investigations from different tissues.

Abstract

First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola, the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, Killian-Teschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21qq. It is one of the chromosome aberrations in which clinical recognition is important in order to initiate the necessary cytogenetic investigations from different tissues.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Pallister-Killian syndrome
Language:English
Date:February 1991
Deposited On:20 Oct 2023 08:40
Last Modified:29 Apr 2024 01:40
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Publisher DOI:https://doi.org/10.1136/jmg.28.2.122
Related URLs:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016781/ (Library Catalogue)
PubMed ID:2002482
Other Identification Number:Corpus ID: 260770381 / PMCID: PMC1016781