Extractions: home sitemap suggest url LOCATION HOME Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome NORD: Pallister Killian Mosaic Syndrome Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister%20Killian%20Mosaic%20Syndrome
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Pallister-Killian Mosaic Syndrome Web site dedicated to the pallisterkillian syndrome, a meeting point, a collectionof link and useful information, Il sito raccoglie materiale utile per le http://www.pk-syndrome.org/
Pallister-Killian Mosaic Syndrome - Description Web site dedicated to the pallisterkillian syndrome, a meeting point, a collectionof link and useful information, Il sito raccoglie materiale utile per le http://www.pk-syndrome.org/pks_desc_e.htm
Extractions: DESCRIPTION Pallister-Killian Syndrome can also be found with the following According to the NORD (National Organization for Rare Disorders) Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. 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: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, 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. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).
Pallister's Mosaicism Syndrome (www.whonamedit.com) pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs forno apparent reason. Major symptoms may include a coarse face with a high http://www.whonamedit.com/synd.cfm/1868.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Tetrasomy of the short arm of chromosome 12. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. 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. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
JHC -- Sign In Page Key Words pallisterkillian syndrome mosaic tetrasomy 12p pallister-killiansyndrome (PKS), or mosaic tetrasomy 12p, is a rare, sporadic syndrome. http://www.jhc.org/cgi/content/full/53/3/361
Extractions: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Polityko, A. D. Articles by Naumchik, I. To view this item, select one of the options below: Sign In User Name Sign in without cookies.
Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Polityko, A. D. Articles by Naumchik, I. Journal of Histochemistry and Cytochemistry Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics Anna D. Polityko Elena Goncharova Ludmila Shamgina Natalia Drozdovskaja Lubov Podleschuk Elena Abramchik Eugenia Jaroshevich Olga Khurs Irina Pisarik Oksana Pribushenya Natalia Rumyantseva and Irina Naumchik Institute for Hereditary Diseases, Minsk, Belarus Correspondence to: Dr. A.D. Polityko, Institute for Hereditary Diseases, Orlovskaya str. 66, Minsk 220053, Belarus. E-mail: Pallister-Killian syndrome (PKS) is characterized cytogenetically by mosaic tetrasomy of chromosome 12p. Routine prenatal diagnosis
Entrez PubMed pallisterkillian mosaic syndrome Article in Japanese Kawame H. Division ofClinical and Molecular Genetics, Shinshu University Hospital. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
IRSC - Rare Disorders, Pallister-Killian Syndrome pallisterkillian mosaic syndrome (PKS) - http//www.pk-syndrome.org A maininterface to the PKS related information on the Web and an entry point to reach http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca
Pallister-killian.html pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no TITLE A case of mosaic tetrasomy 12p (pallister-killian syndrome) http://www.indiana.edu/~pietsch/pallister-killian.html
Extractions: The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information NORD , The National Organization of Rare Diseases, has the following to say about PKS Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. 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. What follows are literature citations, plus abstracts, of scientific articles on the subject. Record 1 of 29 in MEDLINE EXPRESS (R) 1999/01-1999/02 TITLE: Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling.
Extractions: Vol. 117 No. 12, December 1999 Featured Link E-mail Alerts Case Reports and Small Case Series Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Graham W Kukolich MK ISI Web of Science (1) Contact me when this article is cited Retinal Pigment Mosaicism in Pallister-Killian Syndrome (Mosaic Tetrasomy 12p) Arch Ophthalmol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Pallister-Killian syndrome (PKS) was first reported by Pallister in 1977 and later by Teschler-Nicola and Killian in 1981. This condition is caused by a mosaic tetrasomy of chromosome 12p, which is detectable in cultured fibroblastoid cells but
Gazi Týp Fakültesi - Gazi Medical Journal 1. Schinzel A Tetrasomy 12p (pallisterkillian syndrome). Arbez-Gindre F,Peltie J, Gouget A pallister-killian mosaic tetrasomy 12p syndrome. http://www.med.gazi.edu.tr/gmj/1998_3_142_145.html
Extractions: Free University of Brussels, Hospital Universitaire Bragmann, Unite de Cytogenetique**, Brussels, Belgium Gazi Medical Journal 1998; 9 : 142-145 SUMMARY : A further case of mosaic tetrasomy 12p detected prenatally is reported. The 38-year-old mother in her third pregnancy was referred to our center at 15 weeks of gestation because of advanced maternal age. Amniocentesis was performed and the culture yielded a 46,XX/47,XX,+ i(12p) ? karyotype. The fetus was suspected to have Pallister-Killian Syndrome. The diagnosis was confirmed by FISH analysis. An ultrasound examination showed the fetus to have a diaphragmatic hernia. The pregnancy was terminated with the consent of the family. The fetus showed multiple congenital abnormalities including a large and coarse face, frontal bossing, high frontal hairline, hypertelorism, wide-flat nasal bridge, small, upturned nose, full cheeks, large mouth, short mandible, short neck with excess nuchal skin, and low set ears. Fetal skin fibroblast cultures confirmed the cytogenetic diagnosis of tetrasomy 12p whereas the fetal blood yielded only normal karyotype. Karyotypes of the parents were also normal. Autopsy findings of the fetus confirmed the diagnosis of congenital diaphragmatic hernia.
Center For Prenatal Diagnosis Tetrasomy 12p is consistent with pallisterkillian syndrome (PKS). the PrenatalDiagnosis of mosaic Tetrasomy 12p (pallister-killian syndrome) A Case http://www.cpdx.com/pallister.html
Extractions: A review of the literature indicates that all Pallister-Killian fetuses with diaphragmatic defects die shortly after birth. Hydramnios, short limbs and diaphragmatic defects are common in PKS. Sacral appendage has been reported in association with PKS. Hydrocephalus is also reported in PKS. This case appears to be the first associated with Dandy-Walker malformation. The extra chromosome is often not found in peripheral lymphocytes and may be lost in cultured cell lines. If cordocentesis had been used to obtain tissue for cytogenetics in this case, as it often is in the third trimester, the extra chromosome confirming the diagnosis of PKS may not have been found. The clinical features of PKS resemble Fryns syndrome, an autosomal recessive condition, which may have been diagnosed in the absence of an accurate karyotype. When diaphragmatic defect in association with other anomalies is detected in late gestation, an amniotic fluid sample rather than fetal blood sample would enable exclusion or confirmation of PKS. Once a correct diagnosis is made, appropriate prognosis and recurrence risk counseling can be provided to the patient.
601803 PALLISTER-KILLIAN SYNDROME; PKS TETRASOMY 12p, mosaic ISOCHROMOSOME 12p syndrome pallisterkillian syndromeis a dysmorphic condition characterized by a tissue-limited mosaicism; http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:601803] -e
Karger Publishers 15 Quarrell OW, Hamill MA, Hughes HE pallisterkillian mosaic syndrome withemphasis on the adult phenotype. Am J Genet 1988;31841-844. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=