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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General Support Organizations

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How do you compare to others with this condition?

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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 17 free, full-text research articles on human participants. First 3 results:

Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.
 

Author(s): Chih-Ping Chen, Cheng-Ran Peng, Schu-Rern Chern, Yu-Ling Kuo, Peih-Shan Wu, Dai-Dyi Town, Chen-Wen Pan, Chien-Wen Yang, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2014 Dec;53(4):566-71.

 

This study aims to present molecular cytogenetic characterization of Pallister-Killian syndrome (PKS).

Last Updated: 16 Dec 2014

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.
 

Author(s): Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz

Journal:

 

Pallister Killian syndrome (OMIM: # 601803) is a rare multisystem disorder typically caused by tissue limited mosaic tetrasomy of chromosome 12p (isochromosome 12p). The clinical manifestations of Pallister Killian syndrome are variable with the most common findings including craniofacial ...

Last Updated: 21 Oct 2014

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Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency.
 

Author(s): Tülay Ozlü, Zeynep Ocak, Osman Ozyurt

Journal: Taiwan J Obstet Gynecol. 2014 Sep;53(3):404-5.

 

Last Updated: 7 Oct 2014

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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: 8 Nov 1991

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.