Pallister-Killian syndrome

パリスター・キリアン症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/01/12 08:42:54」(JST)

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Pallister-Killian syndrome
Classification and external resources
ICD-10	Q99.8
ICD-9	758.5
OMIM	601803

Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an extremely rare genetic disorder occurring in humans. Pallister-Killian occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome. This leads to the development of tetrasomy 12p. Because not all cells have the extra isochromosome, Pallister-Killian is a mosaic condition.

It was first described by Philip Pallister in 1977 and further researched by Maria Teschler-Nicola and Wolfgang Killian in 1981.

Characteristics

Characteristics include varying degrees of developmental disability, epilepsy, hypotonia, and both hypopigmentation and hyperpigmentation. Patients also exhibit a distinctive facial structure, characterized by high foreheads, sparse hair on the temple, a wide space between the eyes, epicanthal folds, and a flat nose. Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts, and supernumerary nipples. Diaphragm problems seen in newborns can lead to death shortly after birth.

As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia prognathia, inverted lower lip, and psychomotor retardation with muscular hypertonia and contractures.

Causes

Pallister-Killian does not appear to be hereditary. Some research has suggested that the presence of the extra chromosome may be linked to premeiotic mitotic errors, both maternally and paternally. Several theories regarding to mechanism of this formation have been introduced.

Diagnosis

The isochromosome can be primarily detected in samples of skin fibroblasts, as well as in chorionic villus and amniotic fluid cell samples. Very rarely, it can also be detected in blood lymphocytes. It is also possible to detect the isochromosome in circulating lymphocytes, as well as other amniotic and placental samples. There is no strict limit as to where the isochromosome can be found. However, it is often unlikely that these samples will be tested when the blood karyotype is normal.

Using an ultrasound, Pallister-Killian may be diagnosed through observation of hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia, and hydramnios. Once born, a child may be diagnosed by observation of the syndrome's distinct facial features.

See also

• List of cutaneous conditions

References

External links

• PKS Kids - The non-profit organization for Pallister-Killian Syndrome
• PKS Support Yahoo Group
• Pallister-Killian Syndrome Home Page

UpToDate Contents

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English Journal

• Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: A skin biopsy should remain the diagnostic gold standard.

• Hodge JC, Hulshizer RL, Seger P, St Antoine A, Bair J, Kirmani S.SourceDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota. hodge.jennelle@mayo.edu.
• American journal of medical genetics. Part A.Am J Med Genet A.2012 Mar;158A(3):669-73. doi: 10.1002/ajmg.a.35209. Epub 2012 Feb 7.
• A child whose features are consistent with Pallister-Killian syndrome (PKS) did not have detectable tetrasomy 12p due to an additional isochromosome 12p in an unstimulated blood specimen by interphase FISH or array CGH analysis. The diagnosis of PKS was made through these methods solely in a skin bi
• PMID 22315202

• Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.

• Filloux FM, Carey JC, Krantz ID, Ekstrand JJ, Candee MS.SourceDivision of Pediatric Neurology, University of Utah School of Medicine and Primary Children's Medical Center 100 N. Mario Capecchi Drive, Salt Lake City, UT 84113, USA.
• European journal of medical genetics.Eur J Med Genet.2012 Feb 1. [Epub ahead of print]
• Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by tetrasomy 12p mosaicism associated with a supernumerary isochromosome. Craniofacial dysmorphism, learning impairment and seizures are considered characteristic. However, little is known of the seizure and epilepsy patter
• PMID 22349688

Japanese Journal

• Brain MRI findings of older patients with Pallister-Killian syndrome

• SAITO Yoshiaki,MASUKO Kaori,KANEKO Kaori,CHIKUMARU Yuri,SAITO Kazuyo,IWAMOTO Hiroko,MATSUI Akira,AIDA Noriko,KUROSAWA Kenji,KUROKI Yoshikazu,KIMURA Seiji
• Brain & development 28(1), 34-38, 2006-01
• NAID 10017319196

Related Links

• Pallister-Killian Mosaic Syndrome

14 gen 2012 ... Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.

• Pallister-Killian Mosaic Syndrome - Description

27 Mar 2002 ... Chromosome 12, Isochromosome 12p Mosaic; Killian Syndrome; Killian/Teschler -Nicola Syndrome; Pallister Mosaic ... According to the NORD (National Organization for Rare Disorders) Pallister-Killian Mosaic Syndrome is a ...

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Pallister-Killian syndrome

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パリスター症候群 Pallister syndrome、キリアン症候群 Killian syndrome、パリスター-キリアン症候群

参考

http://www.pk-syndrome.org/pks_desc_e.htm

• free leaflet

http://www.pkskids.net/UNIQUE.pdf

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