Pallister Killian‐mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case

Abstract

A new case of mosaic tetrasomy 12 p (46,XY/47,XY, +i12 p), diagnosed during pregnancy from ultrasonographic signs, is reported. We emphasize the peculiar position of the diaphragmatic hernia in this syndrome. Its presence or absence determines the vital prognosis and the age of diagnosis. The knowledge of its possible association with tetrasomy 12 p can contribute considerably to the neonatal diagnosis by directing the work of the cytogeneticist to tissue cultures which enable him to detect the presence of the tetrasomy.

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

“…The dysmorphisms and structural internal malformations encountered in our case fitted the Pallister-Killian syndrome in the fetus (Steinbach and Rehder, 1987;Bresson et al, 1991;McLean et al, 1992;Bernert et al, 1992). However, the polydactyly could either be part of the Pallister-Killian syndrome or the expression of autosomal dominant heredity in the mother's family.…”

Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.

“…Prenatal diagnoses of mosaic tetrasomy 12p by CVS were reported by Sharland et al4 and Bresson et al 8 In both cases a similarly high percentage of tetrasomic cells was detected. In our case 1 with Pallister-Killian syndrome a normal karyotype in direct preparation and in long term culture of chorionic tissue was observed.…”

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

“…To date, there have been only three reported cases of Pallister-Killian syndrome diagnosed prenatally by chorionic villus sampling (CVS) (Bresson et al, 1991;Sharland et al, 1991;Bernert et al, 1992). It is interesting to note that in all three cases the i(12p) was present in nearly 100 per cent of the cells analysed from either direct preparations or 24 h cultures.…”

“…Prenatal diagnosis has been previously reported in 23 cases of PKS (Gilgenkrantz et al, 1985;Lopes et al, 1985;Hunter et al, 1986;Steinbach and Rehder, 1987;Shivashankar et al, 1988;Eydoux et al, 1989;Soukup and Neidich, 1990;Bresson et al, 1991;Sharland et al, 1991;Speleman et al, 1991;Blancato et al, 1992;Bernert et al, 1992;McLean et al, 1992;Priest et al, 1992;Tejada et al, 1992;Bergoffen et al, 1993;Donnenfeld et al, 1993;Larramendy et al, 1993;Wilson et al, 1994;Los et al, 1995). Both chorionic villi and amniocytes appear to maintain the isochromosome; however, the level of mosaicism varies greatly between individuals.…”