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Topic: Pallister-Killian syndrome

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TheFetus.net - Pallister Killian syndrome -Fabrice Cuillier, M. Deshayes, J.F. Cartault The parents were referred for genetic counseling and were advised that although a confined placental mosaicism was possible, the clinical findings in the fetus, were highly suggestive that the fetus was affected by Pallister Killian syndrome. On the basis of this, given the poor prognosis for Pallister Killian syndrome and after counseling, the couple elected to terminate the pregnancy at 29 weeks gestation. Prenatal diagnosis of the Pallister-Killian syndrome has been reported in several instances, with the first description by Gilgenkrantz et al in 1985 www.thefetus.net /page.php?id=1162

Andy Faase (Pallister-Killian syndrome is a dysmorphic condition characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal.) Below some resources about this syndrome. We decided to take the point of view that Andy does have the Kabuki Syndrome, until it is clearly that he does not. He said that if an analysis would be made, he would be very likely score very high with respect to the Kabuki Syndrome, but he also said that because of the broad range of characteristics, the Kabuki Syndrome does rather easily show up. www.iwriteiam.nl /Andy.html

mr_dx_ing.asp?mr=258 Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Pallister-Killian syndrome (PKS) is characterized by multiple congenital anomalies including pigmentary skin changes, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)]. Cormier-Daire et al., (1997) presented data in one case suggesting that the origin of the isochromosome was prezygotic. malattierare.pediatria.unipd.it /pubblicaMR/mr_dx_ing.asp?mr=258

pallister-killian.html ABSTRACT: Detection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister-Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha satellite probe. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition. Secondary loss of the isochromosome was evaluated by in vitro selection in case 2 analysing metaphases and interphases of fibroblasts in the 1st, 4th and 5th subculture using FISH. www.indiana.edu /~pietsch/pallister-killian.html

Chromosome - Wikipedia, the free encyclopedia Cat-eye syndrome and isodicentric chromosome 15 syndrome are both caused by a supernumerary marker chromosome, as is Pallister-Killian syndrome. During mitosis (cell division), the chromosomes are condensed and a spindle composed of microtubules is formed. Chromosomes were first observed in plant cells by Swiss botanist Karl Wilhelm von Nägeli (1817-1891) in 1842, and independently, in Ascaris worms, by the Belgian scientist Edouard Van Beneden (1846-1910). en.wikipedia.org /wiki/Chromosome   (1702 words)

Pallister-Killian Mosaic Syndrome - Description PATHOGENESIS: Also called Killian/Teschler-Nicola Syndrome, Pallister Mosaic Syndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the phenotypic features are due to the presence of four copies of chromosome 12p in affected cells the presence of the isochromosome 12p gives 4 copies of chromosome 12p in the affected cells All recorded cases of this disorder have been sporadic (not believed to be hereditary). www.pk-syndrome.org /pks_desc_e.htm   (1702 words)

Pallister Killian Mosaic Syndrome :: Genetic Disorders NORD: Pallister Killian Mosaic Syndrome: National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Gourt :: Health :: Conditions and Diseases :: Genetic Disorders :: Pallister Killian Mosaic Syndrome National Library of Medicine: The synonyms of Killian syndrome, a summary and a list of major features. www.gourt.com /Health/Conditions-and-Diseases/Genetic-Disorders/Pallister-Killian-Mosaic-Syndrome.html   (133 words)

Pallister Killian Mosaic Syndrome 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). 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 mechanism and parental origin of the isochromosome 12p can usually not be determined. hw.healthdialog.com /kbase/nord/nord512.htm   (133 words)

wgetz?-e+[omim-id:601803] Pallister-Killian syndrome is a dysmorphic condition characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. Secondary loss of the isochromosome was demonstrated in the second case by analyzing metaphases and interphases of fibroblasts in the first, fourth, and fifth subculture using fluorescence in situ hybridization. They pointed out that isochromosome 12p is a frequent cytogenetic marker of germ cell tumors (testicular and ovarian) and has been observed in pineal germ cell tumors (de Bruin et al., 1994). zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:601803]   (133 words)

TheFetus.net - Pallister Killian syndrome -Fabrice Cuillier, M. Deshayes, J.F. Cartault Individuals with Pallister-Killian syndrome are often mosaic of isochromosom 12p, but in some case, the degree of mosaicism in the chorion villus sample is much more lower than that in the fetal tissues subsequently examined. The presence of the i(12p) was confirmed in cultures of fetal skin and the isochromosome was observed in cells derived from fibroblasts culture. In fact, it has been reported that the supernumerary isochromosome 12p may not be found in fetal blood cells, though in the Palladini¹s case and in another report2, the marker chromosome was indeed found in fetal peripheral lymphocytes www.thefetus.net /page.php?id=1162   (133 words)

TheFetus.net - Pallister Killian syndrome -Fabrice Cuillier, M. Deshayes, J.F. Cartault Differential diagnosis: The diagnosis of Pallister-Killian syndrome depends mainly on the demonstration of cytogenetic abnormalities because the clinical pictures can be confused with that of Fryns syndrome. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. They made a prenatal diagnosis of tetrasomy 12p from amniocytes, using the R-banding technique and the study of gene dosage effects for SOD1 and LDH-B, after an ultrasound study was carried out first. www.thefetus.net /page.php?id=1162   (3216 words)

Pallister-Killian Mosaic Syndrome - Edward's story At the end of Edward's first week, they had found a name for the syndrome - Pallister-Killian, but were unable to confirm this until they had sent a skin culture to the laboratory for testing. Edward was transferred to the Sick Children's Hospital in Edinburgh when he was eight days old. The local hospital at Falkirk has now offered regular respite care, when Edward will be taken in for either one or two nights at a time, so that the rest of the family can have some undisturbed sleep. www.mclink.it /personal/MC6746/Edward.htm   (969 words)

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