Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome
Autor: | N. J. Leonard, Stephen Bamforth, Geoffrey A. Machin, C. Johnson, Francois P. Bernier, Fiona Bamforth, P. Grundy, Noreen L. Rudd |
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Rok vydání: | 1996 |
Předmět: |
Gynecology
Genetics congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry Beckwith–Wiedemann syndrome Monozygotic twin medicine.disease Gigantism Increased risk Wiedemann-Beckwith syndrome Recien nacido Macroglossia Medicine cardiovascular diseases medicine.symptom business Genetics (clinical) |
Zdroj: | American Journal of Medical Genetics. 61:253-257 |
ISSN: | 1096-8628 0148-7299 |
DOI: | 10.1002/(sici)1096-8628(19960122)61:3<253::aid-ajmg9>3.0.co;2-v |
Popis: | 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 date, 15 monozygotic (MZ) twin pairs have been reported of which 13 are discordant for WBS. All except one pair of the discordant WBS twin pairs have been female. We report two pairs of male MZ twins, each discordant for WBS. |
Databáze: | OpenAIRE |
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