Monozygotic male twins concordant for Beckwith-Wiedemann syndrome
- West Penn Hospital, Pittsburgh, PA (United States)
The Beckwith-Wiedemann syndrome (BWS) is a multiple congenital anomaly syndrome characterized by macrosomia, macro glossia, visceromegaly, characteristic facies, and in some cases omphalocele, hypoglycemia, hemihypertrophy, and risk of embryonal tumors. Most cases occur sporadically in chromosomally normal individuals, but a few BWS patients have anomalies of 11p and others have evidence of microduplications or paternal isodisomy in this region. In some families with autosomal dominant transmission, BWS maps to 11p15.5, but the mechanism of transmission is not fully understood. BWS has been reported in 11 sets of MZ twins, including 10 female pairs (9 discordant and 1 partially concordant) and one male pair concordant for both BWS & dup 15q11.2-q13. We report a pair of premature male MZ twins with macroglossia, postnatal overgrowth, characteristic BWS facies, and mild developmental delay. One twin had hypoglycemia, but neither had omphalocele or hemihypertrophy and serial abdominal ultrasounds have been normal. DNA fingerprinting confirmed monozygosity. Chromosome studies showed a marker 11p14.2 in one twin only, and molecular genetic studies of the 11p15.5 region showed no evidence of duplication or isodisomy in either twin.
- OSTI ID:
- 134561
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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