title: Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization.
abstract: Comparative genomic hybridization (CGH) is a FISH-related technique used to assess global chromosomal aberrations in a variety of human tumours. Recently CGH has been applied to cytogenetic analysis of fresh frozen fetoplacental tissues. Here we report the application of CGH to paraffin-embedded placental samples. Ten samples from paraffin-embedded blocks of 6 control placentas and fetoplacental tissue from 10 aneuploidies, and 2 unbalanced aberrations were evaluated. Balanced karyotype profiles were obtained from samples of healthy placentas and all samples from the same placenta appeared to have similar confidence intervals. CGH analysis of four cases of trisomy 21, three cases of trisomy 18, one case of trisomy 13, one case of trisomy 15 and one case of trisomy 7 all showed overrepresentation of the respective trisomic chromosome. The CGH profile was also in accordance with the karyotyping of a case with isochromosome 21. The CGH profile of a case with der (2)t(2;6)(q37.3;q22.2) revealed partial trisomy for chromosome 6 between q21 and q27. CGH may be a useful adjunct in prenatal genetic diagnosis when retrospective diagnosis is needed from archival samples.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. tulin.ozcan@yale.edu
authors.forename: T
authors.initials: T
authors.lastname: Ozcan
authors.forename: N
authors.initials: N
authors.lastname: Burki
authors.forename: V
authors.initials: V
authors.lastname: Parkash
authors.forename: X
authors.initials: X
authors.lastname: Huang
authors.forename: T
authors.initials: T
authors.lastname: Pejovic
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
authors.forename: D C
authors.initials: DC
authors.lastname: Ward
mesh_terms: D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D002896:Chromosomes, Human, Pair 6; D020732:Cytogenetic Analysis; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D018404:Isochromosomes; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010232:Paraffin; D010920:Placenta / Q000737:chemistry*; D011247:Pregnancy; D016610:Tissue Embedding; D014314:Trisomy
chemical_list: D010232:Paraffin