|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three of the four patients have typical i(12p) and one of the four demonstrated atypical tetrasomy 12p.
|
31454185 |
2019 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder.
|
30289601 |
2018 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS.
|
26890086 |
2016 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p).
|
28040135 |
2016 |
|
IGHV1-12
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied 15 patients with a previous cytogenetic and clinical diagnosis of Pallister-Killian syndrome using genome-wide SNP arrays to investigate the ability of this platform to identify the i(12p) in blood and tissue.
|
23169773 |
2012 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)].
|
18000682 |
2008 |
|
IGHV1-12
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Apart from the correlation of about one third of the sSMC cases with a specific clinical picture, i.e. the i(18p), der(22), i(12p) (Pallister Killian syndrome) and inv dup(22) (cat-eye) syndromes, most of the remaining sSMC have not yet been correlated with clinical syndromes.
|
16276087 |
2006 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
We demonstrated a decrease of the abnormal clone with extra i(12p) in the amniotic fluid cells of the PKS fetus during amniocyte subculturing.
|
15750020 |
2005 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures.
|
14641998 |
2003 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Reported cases of PKS where the parental origin of the i(12p) was determined were also reviewed.
|
10323734 |
1999 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization.
|
9831340 |
1998 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, the diagnosis of Pallister-Killian Syndrome (PKS) is confirmed by mosaicism of i(12p), that is, the affected patients exhibit tissue-specific mosaicism, with the abnormal karyotype expression in limited lymphocytes, but marked in fibroblasts.
|
9605253 |
1997 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
As such, these cases highlight the fact that tetrasomy 12p [i(12p)] and Pallister-Killian syndrome are not synonymous, although this combination of genotype and phenotype is often seen.
|
9111997 |
1997 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)].
|
9110370 |
1997 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.
|
9295085 |
1997 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
They were used to analyse and quantify the presence of i(12p) in lymphocytes, granulocytes/monocytes, skin fibroblasts and buccal mucosal cells from five patients and one aborted fetus with PKS, and ten normal donors.
|
8462971 |
1993 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non-invasive method for confirming the diagnosis of the Pallister-Killian syndrome.
|
8418650 |
1993 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures.
|
1513756 |
1992 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes.
|
1789295 |
1991 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
This cell line should be a valuable tool for physical mapping of 12p-derived DNA fragments; at the same time, it confirms the identity of the extra chromosome in the Pallister-Killian syndrome as i(12p).
|
2807276 |
1989 |
|
IGHV1-12
|
0.100 |
Biomarker
|
disease |
BEFREE |
These cases have clinical features compatible with those in previously reported cases of the Teschler-Nicola/Killian syndrome, many of whom have now been found to be mosaic for a similar i(12p) chromosome in fibroblast cultures.
|
3605213 |
1987 |