Pallister Killian syndrome

Common Name(s)

Pallister Killian syndrome, Pallister Killian mosaic syndrome

Pallister-Killian syndrome is a rare chromosomal condition where some cells in the body have an extra copy of genetic material on the twelfth chromosome. Typically cells have 46 chromosomes that are arranged into 23 pairs: 23 from the mother and 23 from the father. Individuals with Pallister-Killian syndrome have some cells with the 46 expected chromosomes plus an extra chromosome that is made of two copies of the short (p) arm from the twelfth chromosome. This means that these cells have four copies of the short (p) arm, rather than the normal two. Pallister-Killian syndrome is called a mosaic syndrome because only some cells contain the extra material. Pallister-Killian syndrome is most often due to a random (de novo) event that occurs during the early development of the egg or sperm.

Symptoms of Pallister-Killian syndrome can vary, although most individuals experience low muscle tone (hypotonia), intellectual disabilities, distinctive facial features, and other birth defects. Sparse hair or bald patches are typical, especially around the temples, but these patches often fill in around middle childhood. Common facial features include a rounded forehead, widely spaced eyes, and a large mouth with a thin upper lip. Less common features include short legs or arms, seizures, or a diaphragmatic hernia (a hole in the muscle that separates the abdomen from the chest cavity). No individual will show all symptoms, so chromosomal analysis is the only way to diagnose the syndrome.

Although there is no cure for Pallister-Killian syndrome, there are many available treatments for the symptoms. Doctors may seek help from various therapists and community services to help care for and support families affected by this condition. Genetic counselors and support groups can be great resources and sources of information and offer a way to connect with other families with the same condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pallister Killian syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pallister Killian syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

View Details

 

General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pallister Killian syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.
 

Author(s): Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino

Journal: Taiwan J Obstet Gynecol. 2016 Dec;55(6):863-866.

 

Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial ...

Last Updated: 31 Dec 1969

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Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.
 

Author(s): Mi Na Lee, Jiwon Lee, Hee Joon Yu, Jeehun Lee, Sun Hee Kim

Journal: Ann Lab Med. 2017 Jan;37(1):66-70.

 

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array ...

Last Updated: 31 Dec 1969

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Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.
 

Author(s): Josef Davidsson, Bertil Johansson

Journal: Epigenetics. 2016 Mar;11(3):194-204.

 

To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pallister Killian syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.
 

Author(s): D R McLeod, L R Wesselman, D I Hoar

Journal: J. Med. Genet.. 1991 Aug;28(8):541-3.

 

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.