Pallister Killian Mosaic Syndrome

Pallister Killian Mosaic Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pallister Killian Mosaic Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chromosome 12, Isochromosome 12p syndrome
  • Killian Syndrome
  • Killian/Teschler-Nicola Syndrome
  • Pallister Mosaic Syndrome
  • Tetrasomy 12p, mosaic
  • Teschler-Nicola/Killian Syndrome

Disorder Subdivisions

  • None

General Discussion

Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.

Symptoms

Individuals with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth (hypotonia), sparse scalp hair, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward.



Additional features frequently found in affected individuals may include streaks of skin in which there is no color (hypopigmentation); extra nipples; seizures; droopy upper eyelids, crossed eyes (strabismus); joints that will not move (contractures); and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays). Mental retardation and difficulties with speech development often occur as well. In rare cases, affected children may experience hearing loss.



Congenital heart defects, hernias of the diaphragm, a narrowing of the external auditory canal (stenosis) and an abnormal opening in the anus have also been associated with Pallister-Killian Mosaic Syndrome. Some affected individuals may have an underdeveloped (hypoplastic) lung, abnormalities of the genitourinary system, and skeletal malformations.

Causes

Pallister-Killian Mosaic Syndrome is caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. The extra two copies of the short arm of chromosome 12 (12p) usually appear as a single chromosome (isochromosome) and are sometimes present in some but not all cells examined. The chromosome abnormality in Pallister-Killian Mosaic Syndrome is limited to specific cell types. The mechanism and parental origin of the isochromosome 12p can usually not be determined.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q".

Affected Populations

Pallister-Killian Mosaic Syndrome is a very rare disorder that affects males and females in equal numbers. More than 30 cases of this disorder have been reported in the medical literature.

Standard Therapies

Diagnosis

Diagnosis is usually made from a chromosome study of skin cells (fibroblasts) that reveals 47 chromosomes including an extra small chromosome that has two short (p) arms and no long (q) arm (isochromosome). A blood chromosome study usually shows normal chromosomes, but some affected persons have some blood cells (lymphocytes) with an isochromosome 12p. Fluorescent in situ hybridization (FISH) may be used with specific chromosome 12 DNA probes to detect isochromosome 12p.



Pallister-Killian Mosaic Syndrome can be diagnosed before birth (prenatally) by removing a small amount of fluid that is in the womb during pregnancy (amniocentesis) or by removing a small number of cells from outside the sac where the fetus develops (chorionic villous sampling).



Treatment

There is no specific therapy for individuals with Pallister-Killian Mosaic Syndrome. Affected children may benefit from early intervention programs and special education. Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOK

Jones KL. Smith's Recognizable Patterns of Human Malformation. Philadelphia, PA: W. B. Saunders Company; 1997:208-9.



REVIEWS

Chiesa J, et al., Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clin Genet. 1998;54:294-302.



Smulian J, et al., Genetics casebook. Pallister-Killian syndrome. J Perinatol. 1996;16:406-12.



ARTICLES

Schuster M, et al., Severe hearing loss in Pallister-Killian syndrome. ORL J Otorhinolaryngol Relat Spec. 2002;64:343-5.



Doray B, et al., Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn. 2002;22:470-7.



Takakuwa K, et al., A case of mosaic tetrasomy 12p (Pallister-Killian Syndrome) diagnosed prenatally: comparison of chromosome analysis of various cells obtained from the patient. Am J Perinatol. 1997;14:641-43.



Schubert R, et al., Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection. Am J Med Genet. 1997;72:106-10.



Schaefer GB, et al., Clinical variability of tetrasomy 12p. Clin Genet. 1997;51:102-08.



Mathieu M, et al., Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children). Ann Genet. 1997;40:45-54.



FROM THE INTERNET

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:601803; Last Update:3/20/01.

Resources

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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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