Wiedemann-Beckwith syndrome

presentation of clinical and cytogenetic data on 22 new cases and review of the literature

M. J. Pettenati, J. L. Haines, R. R. Higgins, R. S. Wappner, C. G. Palmer, David Weaver

Research output: Contribution to journalArticle

205 Citations (Scopus)

Abstract

The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.

Original languageEnglish
Pages (from-to)143-154
Number of pages12
JournalHuman Genetics
Volume74
Issue number2
DOIs
StatePublished - Oct 1986

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Beckwith-Wiedemann Syndrome
Cytogenetics
Gigantism
Macroglossia
Port-Wine Stain
Penetrance
Abdominal Wall
Hypoglycemia
Chromosome Aberrations
Ear
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Wiedemann-Beckwith syndrome : presentation of clinical and cytogenetic data on 22 new cases and review of the literature. / Pettenati, M. J.; Haines, J. L.; Higgins, R. R.; Wappner, R. S.; Palmer, C. G.; Weaver, David.

In: Human Genetics, Vol. 74, No. 2, 10.1986, p. 143-154.

Research output: Contribution to journalArticle

Pettenati, M. J. ; Haines, J. L. ; Higgins, R. R. ; Wappner, R. S. ; Palmer, C. G. ; Weaver, David. / Wiedemann-Beckwith syndrome : presentation of clinical and cytogenetic data on 22 new cases and review of the literature. In: Human Genetics. 1986 ; Vol. 74, No. 2. pp. 143-154.
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