Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparentely balanced translocations

Abstract

By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

“…Subsequently, other individuals with two de novo translocations have been reported by Bell and Warburton [1977], Stoll et al [1979], Chewings et a1 [1982], and Lieber and Shah [ 19821, and an individual with three de novo reciprocal translocations was observed by Watt and Couzin [1983]. Several other reports concern individuals who received a Robertsonian translocation from one parent and a reciprocal translocation from the other [Jacobs et al, 1970[Jacobs et al, , 1974Hansen et al, 19831 or a different reciprocal translocation from each of two carrier parents [de Grouchy et al, 19721.…”

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

“…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. Two of the fetuses that were terminated were grossly normal [Batista et al, 1993;Sikkema-Raddatz et al, 19951, whereas the case reported here and one previous case [Kim et al, 19861 showed intrauterine growth retardation.…”

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).…”