Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

“…While postnatal clinical diagnosis of BWS is obvious, prenatal diagnosis is still a challenge and the condition frequently undiagnosed. Prenatal cases of BWS have been reported previously (Weinstein and Anderson, 1980;Grundy et al, 1985;Koontz et al, 1986;Winter et al, 1986;Cobellis et al, 1988;Lodeiro et al, 1989;Meizner et al, 1989;Wieacker et al, 1989;Shah and Metlay, 1990;Viljoen et al, 1991;Hewitt and Bankier, 1994;Nowotny et al, 1994;Whisson et al, 1994;Drut and Drut, 1996;Fremond et al, 1997;Harker et al, 1997;Ranzini et al, 1997;Fert-Ferrer et al, 2000;Hamada et al, 2001;O'Connor and Levine, 2002;Reish et al, 2002;Weinstein and Goldstein, 2002). Anomalies can be detected prenatally by ultrasound and may suggest the syndrome.…”

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

“…Two of the four describe translocations involving 11p. 48,49 The third reported t(8;11) involves breakpoints in 8q24 and 11q13. 50 The fourth reports a translocation with breakpoints in 8q24.3 and 11q23.…”

Prenatal diagnosis of Beckwith–Wiedemann syndrome

“…While the majority of cases of BWS are diagnosed after birth on the basis of physical exam findings, fewer than 20 cases in the literature were diagnosed prenatally (Weinstein and Anderson, 1980;Shapiro et al, 1982;Nivelon-Chevallier et al, 1983;Grundy et al, 1985;Koontz et al, 1986;Winter et al, 1986;Cobellis et al, 1988;Lodeiro et al, 1989;Meizner et al, 1989;Wieacker et al, 1989;Shah and Metlay, 1990;Viljoen et al, 1991;Hewitt and Bankier, 1994;Nowotny et al, 1994;Whisson et al, 1994;Harker et al, 1997;Ranzini et al, 1997;Fert-Ferrer et al, 2000;Hamada et al, 2001). However, prenatal identification and diagnosis have become increasingly important in pregnancy counseling-in light of the burden of increased malignancy risk, large size, and the unusual phenotype; determining proper mode of delivery; managing potentially fatal neonatal issues, including airway obstruction, respiratory distress, hypoglycemia, and congestive heart failure (mortality as high as 21% (Pettenati et al, 1986)); and in counseling and testing family members.…”