Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations

Abstract

Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41-year-old 10-gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal karyotypes. Post-partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow-up examinations up to the age of 4 years.

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).…”

Three cases of mosaicism for balanced reciprocal translocations

“…Thus, only the remaining two confirmed cases had phenotypes probably associated with the BRTM [Saura et al, 1987;Aughton et al, 1993]. This could be due to gene disruption, gene position effect, submicroscopic loss, or duplication of euchromatin [Pruggemayer et al, 1990].…”

Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements

“…There have been only eight previous reports of de novo MCRs or CCRs identified a t prenatal diagnosis (Table I). Of the five liveborns, three were reported to be normal [Kohler et al, 1986;Pruggmayer et al, 1990;Sikkema-Raddatz et al, 19951. The case reported by Bogart et al [1986] appeared normal a t 2 YZ years but had speech delay, while the case reported by Stoll et al [1979] was developmentally delayed and dysmorphic.…”