Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization
- 1 December 1991
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (3) , 381-387
- https://doi.org/10.1002/ajmg.1320410321
Abstract
The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister‐Killian syndrome and one deceased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12‐specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister‐Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.Keywords
This publication has 25 references indexed in Scilit:
- Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridizationHuman Genetics, 1990
- Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogeneticsHuman Genetics, 1990
- Localization and polymorphism of a chromosome 12-specific α satellite DNA sequenceCytogenetic and Genome Research, 1990
- Detection of the Philadelphia chromosome in interphase nucleiCytogenetic and Genome Research, 1990
- In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumorsHistochemistry and Cell Biology, 1988
- Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84Human Genetics, 1986
- Mosaic tetrasomy 12pClinical Genetics, 1985
- The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndromeClinical Genetics, 1985
- Human von Willebrand Factor (vWF): Isolation of Complementary DNA (cDNA) Clones and Chromosomal LocalizationScience, 1985
- 836 LD-B DOSE EFFECT IN TETRASOMY 12p PSEUDOMOSAICISMPediatric Research, 1985