Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three‐year follow‐up in one case

Abstract

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.

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.…”

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

“…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). In two large surveys additional CCRs were noted but no follow-up details were given (Hook and Cross 1987;Warburton, 1991).…”

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

“…Two of the five cases in which the pregnancy was terminated showed no apparent anomalies at autopsy (Batista et al, 1993;Sikkema-Raddatz et al, 1995). In the case reported by Kim et al (1986), the fetus had intra-uterine growth retardation, low-set ears, hypoplastic mandible and widely separated great toes.…”

“…Of the five cases with postnatal follow-up, one with a maternally transmitted rearrangement was clinically normal at birth (Bellec and de Perdigo, 1991), two were apparently normal at two and three years of age (Sikkema-Raddatz et al, 1995;Kohler et al, 1986), one had growth and speech delay (Bogart et al, 1986), and one had multiple congenital anomalies (Mercier et al, 1996). The anomalies included poorly differentiated ears, short neck, widely spaced nipples, hypospadias, bilateral hydrocele, supernumerary distal forearm crease, bilateral single palmar crease, overlapping fingers and metatarsus valgus.…”

“…Only nine cases with apparently balanced CCRs have been found through prenatal diagnosis (Kohler et al, 1986;Kim et al, 1986;Bogart et al, 1986;Bellec and de Perdigo, 1991;Batista et al, 1993;Sikkema-Raddatz et al, 1995;Delaroche et al, 1995;Mercier et al, 1996). Of these, seven rearrangements arose de novo and two were inherited from phenotypically normal mothers.…”