✦ LIBER ✦

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins

✍ Scribed by Olney, Ann Haskins ;Buehler, Bruce A. ;Waziri, Mary ;Optiz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 607 KB
Volume: 29
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320290304

No coin nor oath required. For personal study only.

✦ Synopsis

We report 3 pairs of monozygotic (MZ) twins, one twin showing typical Wiedemann-Beckwith syndrome (WBS) with minimal or no expression of the condition in the co-twin. These cases are documented, and three previously reported M Z twin pairs are reviewed. Phenotypic concordance for this syndrome in M Z twin pairs has not been reported. Many cases of familial occurrence have been published and different modes of inheritance have been postulated. Based on the twin-twin variability seen in our patients, it seems the most likely mechanism of inheritance is an autosomal dominant mutation with environmental modification of expressivity, or reduced phenotrance.

📜 SIMILAR VOLUMES

Two pairs of male monozygotic twins disc

Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome

✍ Leonard, N. J.; Bernier, F. P.; Rudd, N.; Machin, G. A.; Bamforth, F.; Bamforth, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 3 views

Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To dat

Monozygotic twinning and Wiedemann-Beckw

Monozygotic twinning and Wiedemann-Beckwith syndrome

✍ Franceschini, Piergiorgio ;Guala, Andrea ;Vardeu, Maria Paola ;Franceschini, Dan 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 1 views

Wiedemann-Beckwith syndrome (WBS) has already been noted to have asymmetric expression in monozygous (MZ) twins. Up to now 12 sets of MZ twins with WBS have been reported (Table I). To this series we would like to add 2 more sets of female twins, both discordant for WBS. TWIN PAIR 1 This set of twi

Monozygotic twinning and Wiedemann-Beckw

Monozygotic twinning and Wiedemann-Beckwith syndrome

✍ Clayton-Smith, Jill ;Read, Andrew P ;Donnai, Dian 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 399 KB 👁 1 views

## Abstract Monozygotic (MZ) twinning occurs with relatively high frequency in Wiedemann‐Beckwith syndrome (WBS). Ten sets of MZ twins with WBS have been reported. Nine of these have been female and in each case the twins were discordant for the WBS phenotype. The tenth set was male. They were conc

Absence of detectable chromosomal and mo

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

✍ Litz, Craig E. ;Taylor, Kimberly A. ;Qiu, J. S. ;Pescovitz, Ora H. ;De Martinvil 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 877 KB

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.

Non-random X chromosome inactivation in

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

✍ Eliseörstavik, Ragnhild ;Tommerup, Niels ;Eiklid, Kristin ;Heleneörstavik, Karen 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 551 KB

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

Monozygotic twins discordant for Proteus

Monozygotic twins discordant for Proteus syndrome

✍ Knut Brockmann; Rudolf Happle; Frank Oeffner; Arne König 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 3 views