Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new cases

Clinical Genetics

Volumn 46, Issue 2, 1994, Pages 168-174

  Elliott, Margaret ^a   Bayly, Rosemary ^b   Cole, Trevor ^c   Temple, I Karen ^b   Maher, Eamonn R ^a,d  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Beckwith Wiedemann syndrome

Indexed keywords

ABDOMINAL WALL DEFECT; ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIRTH WEIGHT; CLEFT PALATE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; EAR MALFORMATION; FAMILY HISTORY; FEMALE; GROWTH DISORDER; HEMIHYPERTROPHY; HUMAN; HYDRAMNIOS; HYPOGLYCEMIA; KIDNEY DISEASE; MACROGLOSSIA; MAJOR CLINICAL STUDY; MALE; NEOPLASM; NEVUS FLAMMEUS; NEWBORN; POLYDACTYLY; POSTNATAL GROWTH; PREMATURE LABOR; PRIORITY JOURNAL; SYNDROME DELINEATION;

ADOLESCENT; ADULT; BECKWITH-WIEDEMANN SYNDROME; CHILD; CHILD, PRESCHOOL; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMAN; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; INTELLIGENCE; MALE; NEOPLASMS; PEDIGREE;

EID: 0028124711     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1994.tb04219.x     Document Type: Article

References (25)

1. Monozygotic twins discordant for the Wiedemann Beckwith syndrome and the implications for genetic counselling
2. Paternal origin of 11p15 duplications in the Beckwith‐Wiedemann syndrome. A new case and review of the literature
3. Sotos syndrome
4. The Beckwith‐Wiedemann syndrome
5. Perlman and Wiedemann‐Beckwith syndrome: two distinct conditions associated with Wilm's tumour
6. Uniparental paternal disomy in a genetic cancer‐predisposing syndrome
7. Somatic mosaicism for partial paternal isodisomy in Wiedemann‐Beckwith syndrome: a post‐fertilisation event
8. Simpson‐Golabi‐Behmel syndrome associated with renal dysplasia and embryonal tumour: localisation of the gene to Xqcen‐q21
9. The importance of differentiating Simpson‐Golabi‐Behmel and Beckwith‐Wiedemann syndromes
10. Familial Wiedemann‐Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5
11. Das Wiedemann‐Beckwith‐Syndrom
12. Beckwith‐Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females
13. Recurrent Wiedemann‐Beckwith syndrome with inversion of chromosome 11(p11.2p15.5)
14. Molecular analysis of patients with Wiedemann‐Beckwith syndrome II: paternally derived disomies of chromosome 11
15. Molecular analysis of patients with Wiedemann‐Beckwith syndrome I: gene dosage on the short arm of chromosome 11
16. The insulin‐like growth factor II is imprinted in human development and in Beckwith‐Wiedemann syndrome
17. Wiedemann‐Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and a review of the literature
18. Genetic linkage of Beckwith‐Wiedemann syndrome to 11p15
19. Beckwith‐Wiedemann syndrome: role of ultrasound in its management
20. Parental allele specific methylation of the human insulin‐like growth factor 2 gene and Beckwith‐Wiedemann syndrome
21. Evidence for paternal imprinting in familial Beckwith‐Wiedemann syndrome
22. Abnormality of chromosome 11 in patients with features of Beckwith‐Wiedemann syndrome
23. Molecular characterisation of cytogenetic alterations associated with the Beckwith‐Wiedemann syndrome phenotype refines the localisation and suggests the gene for BWS is imprinted
24. Tumours and hemihypertrophy associated with Wiedemann‐Beckwith syndrome
25. Monoallelic expression of the human H19 gene