The Use of Interphase Fish for Prenatal Diagnosis of Pallister–killian Syndrome

Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects

“…A tissuespecific mosaicism with variable expression of supranumerary isochromosome is the unique feature of PKS. Although the karyotype of lymphocytes is nearly always normal, i(12p) is present in a high percentage of fibroblasts and bone marrow cells [2]. Cytogenetic studies, including fluorescent in situ hybridization techniques, allow for reliable prenatal diagnosis from amniocytes, chorionic villi, or fetal tissue [3].…”

“…Progressive psychomotor developmental delay, severe hypotonia, deafness, and seizures become more prominent with age. In contrast, in perinatally diagnosed cases, a much higher incidence of internal organ anomalies is noted, of which congenital diaphragmatic hernia, cardiovascular anomalies, and anorectal anomalies are the most frequent [2,6]. This age-dependent phenotype expression is another characteristic of PKS.…”

Prenatal screening characteristics in Emanuel syndrome: a case series and review of the literature

“…The related Pallister-Killian syndrome (PKS) is also due to small supernumerary marker chromosomes. PKS is suspected in cases with increased NT, and specific sonographic findings; however, no specific pattern of biochemical screening markers was ever shown in this syndrome either [5,6].…”

Tissue-Limited Mosaicism in Pallister-Killian Syndrome — A Case in Point

“…Prenatal ultrasonographic recognition of these malformation patterns may also allow the utilization of FISH. Mowery-Rushton et al 23 have recommended that all cases of prenatally detected diaphragmatic hernia be tested for PallisterKillian syndrome using interphase FISH on uncultured amniocytes. i(12p) is detectable in first-trimester chorionic villi.…”