Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

Abstract

A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4, 6, 15 and 16, was found in cultured cells of amniotic fluid from a 32-year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of peripheral blood from both parents were normal. The couple was counselled for the prenatal diagnosis of this de novo complex translocation and, subsequently, elected to terminate the pregnancy. Post-mortem examination revealed a 23-week fetus with intrauterine growth retardation. The identical chromosome rearrangement was subsequently confirmed in cultured fibroblasts from skin and cord obtained from the abortus. To our knowledge, this is the first report where routine prenatal diagnosis revealed a fetus with a balanced complex chromosomal rearrangement involving four chromosomes of de novo origin.

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping

“…Five pregnancies were terminated (Kim et al, 1986;Batista et al, 1993;Sikkema-Raddatz et al, 1995;Phelan et al, 1998;present case); two of them showed no apparent anomalies at autopsy (Batista et al, 1993;Sikkema-Raddatz et al, 1995). Six pregnancies were pursued.…”

Prenatally diagnosed de novo apparently balanced complex chromosome rearrangements: Two new cases and review of the literature

“…2D). , 1995Sikkema-Raddatz et al, 1995Batista et al, 1993Kim et al, 1986Kohler et al, 1986Bogart et al, 19865;11) nosed balanced de novo CCR. The first was a CCR involving four chromosomes and seven breaks identified by CVS and later confirmed by amniocentesis.…”

Prenatal finding of a fetus with mosaicism for two balancedde novo chromosome rearrangements

“…Although prenatal ultrasound can detect many abnormalities, most CCRs are diagnosed postnatally and have non-specific signs with subtle dysmorphism that are not amenable to prenatal detection. Of the 11 previous reports of de novo balanced CCRs identified prenatally none involved mosaicism and only on two did ultrasound indicate a likely abnormal outcome when IUGR was detected prenatally (Kim et al, 1986;Cotter et al, 1996). Follow-up of the remaining cases postnatally revealed that three were dysmorphic with developmental delay (Ruiz et al, 1996;Bogart et al, 1986); one had speech delay (Stoll et al, 1979) but five were clinically normal (Kohler et al, 1986;Batista et al, 1993;Sikkema-Raddatz et al, 1995;Pruggmayer et al, 1990) (Table 1).…”