Biomaterial Database

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins. 1988

A H Olney, and B A Buehler, and M Waziri

Hattie B. Munroe Center for Human Genetics, Meyer Children's Rehabilitation Institute, University of Nebraska Medical Center, Omaha 68105.

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 MZ twin pairs are reviewed. Phenotypic concordance for this syndrome in MZ 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.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D004200	Diseases in Twins	Disorders affecting TWINS, one or both, at any age.	Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001506	Beckwith-Wiedemann Syndrome	A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.	Wiedemann Syndrome,Wiedemann-Beckwith Syndrome,Wiedemann-Beckwith Syndrome (WBS),EMG Syndrome,Exomphalos-Macroglossia-Gigantism Syndrome,Beckwith Wiedemann Syndrome,EMG Syndromes,Exomphalos Macroglossia Gigantism Syndrome,Exomphalos-Macroglossia-Gigantism Syndromes,Syndrome, Beckwith-Wiedemann,Syndrome, EMG,Syndrome, Exomphalos-Macroglossia-Gigantism,Syndrome, Wiedemann,Syndrome, Wiedemann-Beckwith,Syndrome, Wiedemann-Beckwith (WBS),Wiedemann Beckwith Syndrome,Wiedemann Beckwith Syndrome (WBS),Wiedemann Syndromes,Wiedemann-Beckwith Syndromes (WBS)
D014427	Twins	Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC).	Twin
D014430	Twins, Monozygotic	Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex.	Twins, Identical,Identical Twin,Identical Twins,Monozygotic Twin,Monozygotic Twins,Twin, Identical,Twin, Monozygotic