Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis.
Denovo deletions of 18p without other associated rearrangement are uncommon. For such a deletion to profoundly affect the fetus of a near normal phenotypic carrier would be rarer. We present such a case in which the chance of a cryptic rearrangement was ruled out by fluorescence in situ hybridization (FISH) analysis. Possible explanations for wide variations in clinical expression are discussed.
Tonk
V
V
Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, USA.
Krishna
J
J
D000328:Adult; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008431:Maternal-Fetal Exchange / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy