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Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome

✍ Scribed by Litz, Craig E. ;Taylor, Kimberly A. ;Qiu, J. S. ;Pescovitz, Ora H. ;De Martinville, Bérengère ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
877 KB
Volume
30
Category
Article
ISSN
0148-7299

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✦ Synopsis

Monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) were studied by cytogenetic and molecular methods to determine if a genetic lesion could be detected in the affected child. Probes known to be localized on the short arm of chromosome 11 and a low copy-repetitive probe were used. No genetic lesions could be ascertained in normal or affected tissue obtained from the WBS twin.

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Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to llp15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twi